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nsv6314386

  • Variant Calls:5
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 161 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):119,198,438-119,198,438Question Mark
Overlapping variant regions from other studies: 161 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):119,198,536-119,198,536Question Mark
Overlapping variant regions from other studies: 99 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):102,842,491-102,842,491Question Mark
Overlapping variant regions from other studies: 99 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):102,842,491-102,842,491Question Mark
Overlapping variant regions from other studies: 103 SVs from 33 studies. See in: genome view    
Remapped(Score: Perfect):48,925,282-48,925,282Question Mark
Overlapping variant regions from other studies: 103 SVs from 33 studies. See in: genome view    
Remapped(Score: Perfect):48,925,288-48,925,288Question Mark
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):84,762,420-84,762,420Question Mark
Overlapping variant regions from other studies: 107 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):84,763,363-84,763,363Question Mark
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):55,052,894-55,052,894Question Mark
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):55,052,894-55,052,894Question Mark
Overlapping variant regions from other studies: 161 SVs from 31 studies. See in: genome view    
Submitted genomic118,838,492-118,838,492Question Mark
Overlapping variant regions from other studies: 161 SVs from 31 studies. See in: genome view    
Submitted genomic118,838,590-118,838,590Question Mark
Overlapping variant regions from other studies: 99 SVs from 29 studies. See in: genome view    
Submitted genomic105,604,773-105,604,773Question Mark
Overlapping variant regions from other studies: 99 SVs from 29 studies. See in: genome view    
Submitted genomic105,604,773-105,604,773Question Mark
Overlapping variant regions from other studies: 102 SVs from 33 studies. See in: genome view    
Submitted genomic50,133,327-50,133,327Question Mark
Overlapping variant regions from other studies: 102 SVs from 33 studies. See in: genome view    
Submitted genomic50,133,333-50,133,333Question Mark
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view    
Submitted genomic86,522,176-86,522,176Question Mark
Overlapping variant regions from other studies: 107 SVs from 27 studies. See in: genome view    
Submitted genomic86,523,119-86,523,119Question Mark
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view    
Submitted genomic55,086,806-55,086,806Question Mark
Overlapping variant regions from other studies: 50 SVs from 19 studies. See in: genome view    
Submitted genomic55,086,806-55,086,806Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr7119,198,438119,198,438+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr7119,198,536119,198,536+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr9102,842,491102,842,491+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr9102,842,491102,842,491+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1048,925,28248,925,282+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1048,925,28848,925,288+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1084,762,42084,762,420+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1084,763,36384,763,363+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr1655,052,89455,052,894+
nsv6314386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr1655,052,89455,052,894+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr7118,838,492118,838,492+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr7118,838,590118,838,590+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr9105,604,773105,604,773+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr9105,604,773105,604,773+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1050,133,32750,133,327+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1050,133,33350,133,333+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1086,522,17686,522,176+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1086,523,11986,523,119+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr1655,086,80655,086,806+
nsv6314386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr1655,086,80655,086,806+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975300interchromosomal translocationMultipleMultipleAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1
nssv17975299interchromosomal translocationMultipleMultipleAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1
nssv17975301interchromosomal translocationMultipleMultipleAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1
nssv17975303interchromosomal translocationMultipleMultipleAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1
nssv17975302intrachromosomal translocationMultipleMultipleAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreAssemblyReciprocitySequence IDChrStartStopstrand
nssv17975300RemappedPerfectGRCh38.p12First PassNC_000007.14Chr7119,198,438119,198,438+
nssv17975299RemappedPerfectGRCh38.p12First PassNC_000007.14Chr7119,198,536119,198,536+
nssv17975301RemappedPerfectGRCh38.p12First PassNC_000009.12Chr9102,842,491102,842,491+
nssv17975303RemappedPerfectGRCh38.p12First PassNC_000009.12Chr9102,842,491102,842,491+
nssv17975299RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1048,925,28248,925,282+
nssv17975302RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1048,925,28848,925,288+
nssv17975302RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1084,762,42084,762,420+
nssv17975300RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1084,763,36384,763,363+
nssv17975301RemappedPerfectGRCh38.p12First PassNC_000016.10Chr1655,052,89455,052,894+
nssv17975303RemappedPerfectGRCh38.p12First PassNC_000016.10Chr1655,052,89455,052,894+
nssv17975300Submitted genomicGRCh37 (hg19)NC_000007.13Chr7118,838,492118,838,492+
nssv17975299Submitted genomicGRCh37 (hg19)NC_000007.13Chr7118,838,590118,838,590+
nssv17975301Submitted genomicGRCh37 (hg19)NC_000009.11Chr9105,604,773105,604,773+
nssv17975303Submitted genomicGRCh37 (hg19)NC_000009.11Chr9105,604,773105,604,773+
nssv17975299Submitted genomicGRCh37 (hg19)NC_000010.10Chr1050,133,32750,133,327+
nssv17975302Submitted genomicGRCh37 (hg19)NC_000010.10Chr1050,133,33350,133,333+
nssv17975302Submitted genomicGRCh37 (hg19)NC_000010.10Chr1086,522,17686,522,176+
nssv17975300Submitted genomicGRCh37 (hg19)NC_000010.10Chr1086,523,11986,523,119+
nssv17975301Submitted genomicGRCh37 (hg19)NC_000016.9Chr1655,086,80655,086,806+
nssv17975303Submitted genomicGRCh37 (hg19)NC_000016.9Chr1655,086,80655,086,806+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975300interchromosomal translocationde novoAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1
nssv17975299interchromosomal translocationde novoAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1
nssv17975301interchromosomal translocationde novoAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1
nssv17975303interchromosomal translocationde novoAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1
nssv17975302intrachromosomal translocationde novoAthetosis; Athetosis; Delayed speech and language development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal bridge; Frontal bossing; Frontal bossing; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypotonia; Impaired social interactions; Impaired social interactions; Low-set ears; Low-set ears; Motor delay; Motor delay; Muscular hypotonia; Poor eye contact; Prominent forehead; Prominent forehead; Reduced eye contact; Short chin; Short chin; Triangular face; Triangular face; Uncontrolled eye movements; Uncontrolled eye movementsUncertain significanceClinVarRCV000258550.2, VCV000267922.1

No genotype data were submitted for this variant

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