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nsv6314485

  • Variant Calls:3
  • 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: 81 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):136,218,170-136,218,170Question Mark
Overlapping variant regions from other studies: 81 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):136,218,259-136,218,259Question Mark
Overlapping variant regions from other studies: 135 SVs from 35 studies. See in: genome view    
Remapped(Score: Perfect):155,159,917-155,159,917Question Mark
Overlapping variant regions from other studies: 136 SVs from 35 studies. See in: genome view    
Remapped(Score: Perfect):155,161,938-155,161,938Question Mark
Overlapping variant regions from other studies: 276 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):694,460-694,460Question Mark
Overlapping variant regions from other studies: 282 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):737,632-737,632Question Mark
Overlapping variant regions from other studies: 81 SVs from 26 studies. See in: genome view    
Submitted genomic135,300,329-135,300,329Question Mark
Overlapping variant regions from other studies: 81 SVs from 26 studies. See in: genome view    
Submitted genomic135,300,418-135,300,418Question Mark
Overlapping variant regions from other studies: 134 SVs from 34 studies. See in: genome view    
Submitted genomic154,388,192-154,388,192Question Mark
Overlapping variant regions from other studies: 135 SVs from 34 studies. See in: genome view    
Submitted genomic154,390,213-154,390,213Question Mark
Overlapping variant regions from other studies: 276 SVs from 21 studies. See in: genome view    
Submitted genomic655,195-655,195Question Mark
Overlapping variant regions from other studies: 282 SVs from 26 studies. See in: genome view    
Submitted genomic698,367-698,367Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314485RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX136,218,170136,218,170+
nsv6314485RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX136,218,259136,218,259-
nsv6314485RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX155,159,917155,159,917-
nsv6314485RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX155,161,938155,161,938+
nsv6314485RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX694,460694,460+
nsv6314485RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX737,632737,632+
nsv6314485Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX135,300,329135,300,329+
nsv6314485Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX135,300,418135,300,418-
nsv6314485Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX154,388,192154,388,192-
nsv6314485Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX154,390,213154,390,213+
nsv6314485Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX655,195655,195+
nsv6314485Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX698,367698,367+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975409intrachromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormality of skin pigmentation; Abnormality of skin pigmentation; Abnormality of the dentition; Abnormality of the dentition; Acanthosis Nigricans; Acanthosis nigricans; Acanthosis nigricans; Anteverted nares; Anteverted nares; Carious teeth; Carious teeth; Deeply set eye; Deeply set eye; Global developmental delay; Global developmental delay; Gynecomastia; Gynecomastia; Hyperpigmentation of the skin; Hyperpigmentation of the skin; Long ear; Long ear; Macroorchidism; Macroorchidism; Macrotia; Macrotia; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Tapered finger; Tapered fingerUncertain significanceClinVarRCV000258590.1, VCV000267831.1
nssv17975410intrachromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormality of skin pigmentation; Abnormality of skin pigmentation; Abnormality of the dentition; Abnormality of the dentition; Acanthosis Nigricans; Acanthosis nigricans; Acanthosis nigricans; Anteverted nares; Anteverted nares; Carious teeth; Carious teeth; Deeply set eye; Deeply set eye; Global developmental delay; Global developmental delay; Gynecomastia; Gynecomastia; Hyperpigmentation of the skin; Hyperpigmentation of the skin; Long ear; Long ear; Macroorchidism; Macroorchidism; Macrotia; Macrotia; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Tapered finger; Tapered fingerUncertain significanceClinVarRCV000258590.1, VCV000267831.1
nssv17975412intrachromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Abnormality of skin pigmentation; Abnormality of skin pigmentation; Abnormality of the dentition; Abnormality of the dentition; Acanthosis Nigricans; Acanthosis nigricans; Acanthosis nigricans; Anteverted nares; Anteverted nares; Carious teeth; Carious teeth; Deeply set eye; Deeply set eye; Global developmental delay; Global developmental delay; Gynecomastia; Gynecomastia; Hyperpigmentation of the skin; Hyperpigmentation of the skin; Long ear; Long ear; Macroorchidism; Macroorchidism; Macrotia; Macrotia; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Tapered finger; Tapered fingerUncertain significanceClinVarRCV000258590.1, VCV000267831.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreAssemblyReciprocitySequence IDChrStartStopstrand
nssv17975409RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX694,460694,460+
nssv17975410RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX737,632737,632+
nssv17975409RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX136,218,170136,218,170+
nssv17975412RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX136,218,259136,218,259-
nssv17975410RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX155,159,917155,159,917-
nssv17975412RemappedPerfectGRCh38.p12First PassNC_000023.11ChrX155,161,938155,161,938+
nssv17975409Submitted genomicGRCh37 (hg19)NC_000023.10ChrX655,195655,195+
nssv17975410Submitted genomicGRCh37 (hg19)NC_000023.10ChrX698,367698,367+
nssv17975409Submitted genomicGRCh37 (hg19)NC_000023.10ChrX135,300,329135,300,329+
nssv17975412Submitted genomicGRCh37 (hg19)NC_000023.10ChrX135,300,418135,300,418-
nssv17975410Submitted genomicGRCh37 (hg19)NC_000023.10ChrX154,388,192154,388,192-
nssv17975412Submitted genomicGRCh37 (hg19)NC_000023.10ChrX154,390,213154,390,213+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975409intrachromosomal translocationunknownAbnormal facial shape; Abnormal facial shape; Abnormality of skin pigmentation; Abnormality of skin pigmentation; Abnormality of the dentition; Abnormality of the dentition; Acanthosis Nigricans; Acanthosis nigricans; Acanthosis nigricans; Anteverted nares; Anteverted nares; Carious teeth; Carious teeth; Deeply set eye; Deeply set eye; Global developmental delay; Global developmental delay; Gynecomastia; Gynecomastia; Hyperpigmentation of the skin; Hyperpigmentation of the skin; Long ear; Long ear; Macroorchidism; Macroorchidism; Macrotia; Macrotia; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Tapered finger; Tapered fingerUncertain significanceClinVarRCV000258590.1, VCV000267831.1
nssv17975410intrachromosomal translocationunknownAbnormal facial shape; Abnormal facial shape; Abnormality of skin pigmentation; Abnormality of skin pigmentation; Abnormality of the dentition; Abnormality of the dentition; Acanthosis Nigricans; Acanthosis nigricans; Acanthosis nigricans; Anteverted nares; Anteverted nares; Carious teeth; Carious teeth; Deeply set eye; Deeply set eye; Global developmental delay; Global developmental delay; Gynecomastia; Gynecomastia; Hyperpigmentation of the skin; Hyperpigmentation of the skin; Long ear; Long ear; Macroorchidism; Macroorchidism; Macrotia; Macrotia; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Tapered finger; Tapered fingerUncertain significanceClinVarRCV000258590.1, VCV000267831.1
nssv17975412intrachromosomal translocationunknownAbnormal facial shape; Abnormal facial shape; Abnormality of skin pigmentation; Abnormality of skin pigmentation; Abnormality of the dentition; Abnormality of the dentition; Acanthosis Nigricans; Acanthosis nigricans; Acanthosis nigricans; Anteverted nares; Anteverted nares; Carious teeth; Carious teeth; Deeply set eye; Deeply set eye; Global developmental delay; Global developmental delay; Gynecomastia; Gynecomastia; Hyperpigmentation of the skin; Hyperpigmentation of the skin; Long ear; Long ear; Macroorchidism; Macroorchidism; Macrotia; Macrotia; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Tapered finger; Tapered fingerUncertain significanceClinVarRCV000258590.1, VCV000267831.1

No genotype data were submitted for this variant

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