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nsv2781768

  • 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: 134 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):116,520,664-116,520,664Question Mark
Overlapping variant regions from other studies: 134 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):116,520,664-116,520,664Question Mark
Overlapping variant regions from other studies: 133 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):122,012,010-122,012,010Question Mark
Overlapping variant regions from other studies: 133 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):122,012,010-122,012,010Question Mark
Overlapping variant regions from other studies: 124 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):130,527,041-130,527,041Question Mark
Overlapping variant regions from other studies: 124 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):130,527,041-130,527,041Question Mark
Overlapping variant regions from other studies: 121 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):130,531,150-130,531,150Question Mark
Overlapping variant regions from other studies: 121 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):130,531,150-130,531,150Question Mark
Overlapping variant regions from other studies: 181 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):165,655,553-165,655,553Question Mark
Overlapping variant regions from other studies: 181 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):165,655,553-165,655,553Question Mark
Overlapping variant regions from other studies: 134 SVs from 22 studies. See in: genome view    
Submitted genomic116,841,827-116,841,827Question Mark
Overlapping variant regions from other studies: 134 SVs from 22 studies. See in: genome view    
Submitted genomic116,841,827-116,841,827Question Mark
Overlapping variant regions from other studies: 133 SVs from 24 studies. See in: genome view    
Submitted genomic122,333,156-122,333,156Question Mark
Overlapping variant regions from other studies: 133 SVs from 24 studies. See in: genome view    
Submitted genomic122,333,156-122,333,156Question Mark
Overlapping variant regions from other studies: 124 SVs from 31 studies. See in: genome view    
Submitted genomic130,848,186-130,848,186Question Mark
Overlapping variant regions from other studies: 124 SVs from 31 studies. See in: genome view    
Submitted genomic130,848,186-130,848,186Question Mark
Overlapping variant regions from other studies: 121 SVs from 31 studies. See in: genome view    
Submitted genomic130,852,295-130,852,295Question Mark
Overlapping variant regions from other studies: 121 SVs from 31 studies. See in: genome view    
Submitted genomic130,852,295-130,852,295Question Mark
Overlapping variant regions from other studies: 181 SVs from 25 studies. See in: genome view    
Submitted genomic166,069,041-166,069,041Question Mark
Overlapping variant regions from other studies: 181 SVs from 25 studies. See in: genome view    
Submitted genomic166,069,041-166,069,041Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6116,520,664116,520,664+
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6116,520,664116,520,664+
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6122,012,010122,012,010+
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6122,012,010122,012,010-
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6130,527,041130,527,041+
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6130,527,041130,527,041-
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6130,531,150130,531,150+
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6130,531,150130,531,150-
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6165,655,553165,655,553+
nsv2781768RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6165,655,553165,655,553-
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6116,841,827116,841,827+
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6116,841,827116,841,827+
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6122,333,156122,333,156+
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6122,333,156122,333,156-
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6130,848,186130,848,186+
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6130,848,186130,848,186-
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6130,852,295130,852,295+
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6130,852,295130,852,295-
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6166,069,041166,069,041+
nsv2781768Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6166,069,041166,069,041-

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659893intrachromosomal translocationDGAP143SequencingSplit read and paired-end mappingSCV0003207875
nssv13659897copy number lossDGAP143SequencingSplit read and paired-end mappingSCV0003207875
nssv13659896intrachromosomal translocationDGAP143SequencingSplit read and paired-end mappingSCV0003207875
nssv13659894intrachromosomal translocationDGAP143SequencingSplit read and paired-end mappingSCV0003207875
nssv13659895intrachromosomal translocationDGAP143SequencingSplit read and paired-end mappingSCV0003207875

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659893RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6116,520,664116,520,664+
nssv13659897RemappedPerfectNC_000006.12:g.116
520664delNC_000006
.12:g.122012010del		GRCh38.p12First PassNC_000006.12Chr6116,520,664116,520,664
nssv13659896RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6122,012,010122,012,010-
nssv13659897RemappedPerfectNC_000006.12:g.116
520664delNC_000006
.12:g.122012010del		GRCh38.p12First PassNC_000006.12Chr6122,012,010122,012,010
nssv13659894RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6130,527,041130,527,041+
nssv13659895RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6130,527,041130,527,041-
nssv13659894RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6130,531,150130,531,150-
nssv13659895RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6130,531,150130,531,150+
nssv13659893RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6165,655,553165,655,553-
nssv13659896RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6165,655,553165,655,553+
nssv13659893Submitted genomicGRCh37 (hg19)NC_000006.11Chr6116,841,827116,841,827+
nssv13659897Submitted genomic[NC_000006.11:g.11
6841827del];[NC_00
0006.11:g.12233315
6del]		GRCh37 (hg19)NC_000006.11Chr6116,841,827116,841,827
nssv13659896Submitted genomicGRCh37 (hg19)NC_000006.11Chr6122,333,156122,333,156-
nssv13659897Submitted genomic[NC_000006.11:g.11
6841827del];[NC_00
0006.11:g.12233315
6del]		GRCh37 (hg19)NC_000006.11Chr6122,333,156122,333,156
nssv13659894Submitted genomicGRCh37 (hg19)NC_000006.11Chr6130,848,186130,848,186+
nssv13659895Submitted genomicGRCh37 (hg19)NC_000006.11Chr6130,848,186130,848,186-
nssv13659894Submitted genomicGRCh37 (hg19)NC_000006.11Chr6130,852,295130,852,295-
nssv13659895Submitted genomicGRCh37 (hg19)NC_000006.11Chr6130,852,295130,852,295+
nssv13659893Submitted genomicGRCh37 (hg19)NC_000006.11Chr6166,069,041166,069,041-
nssv13659896Submitted genomicGRCh37 (hg19)NC_000006.11Chr6166,069,041166,069,041+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659893DGAP143intrachromosomal translocationSCV000320787Male5
nssv13659897DGAP143GRCh37: [NC_000006.11:g.116841827del];[NC_000006.11:g.122333156del]copy number lossSCV000320787Male5
nssv13659896DGAP143intrachromosomal translocationSCV000320787Male5
nssv13659894DGAP143intrachromosomal translocationSCV000320787Male5
nssv13659895DGAP143intrachromosomal translocationSCV000320787Male5

No genotype data were submitted for this variant

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