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nsv6314276

  • Variant Calls:2
  • 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: 105 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):27,600,073-27,600,073Question Mark
Overlapping variant regions from other studies: 105 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):27,600,085-27,600,085Question Mark
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):139,330,062-139,330,062Question Mark
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):139,330,068-139,330,068Question Mark
Overlapping variant regions from other studies: 105 SVs from 27 studies. See in: genome view    
Submitted genomic27,926,584-27,926,584Question Mark
Overlapping variant regions from other studies: 105 SVs from 27 studies. See in: genome view    
Submitted genomic27,926,596-27,926,596Question Mark
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view    
Submitted genomic138,665,751-138,665,751Question Mark
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view    
Submitted genomic138,665,757-138,665,757Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314276RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr127,600,07327,600,073-
nsv6314276RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr127,600,08527,600,085+
nsv6314276RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr5139,330,062139,330,062+
nsv6314276RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr5139,330,068139,330,068-
nsv6314276Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr127,926,58427,926,584-
nsv6314276Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr127,926,59627,926,596+
nsv6314276Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr5138,665,751138,665,751+
nsv6314276Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr5138,665,757138,665,757-

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975582interchromosomal translocationMultipleMultipleAORTIC VALVE DISEASE 1; AOVD1; Abnormal number of hair whorls; Abnormal number of hair whorls; Aorta coarctation; Bicuspid aortic valve; Bicuspid aortic valve; Bilateral cryptorchidism; Bilateral cryptorchidism; COARCTATION OF AORTA; Coarctation of aorta; Coarctation of aorta; Downslanted palpebral fissures; Downslanted palpebral fissures; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypospadias, penile; Inguinal hernia; Inguinal hernia; Low-set, posteriorly rotated ears; Low-set, posteriorly rotated ears; Penile hypospadias; Short neck; Short neck; Smooth philtrum; Smooth philtrum; Strabismus; Strabismus; Thickened helices; Thickened helices; Thin vermilion border; Thin vermilion border; Wide intermamillary distance; Wide intermamillary distance; Wide nose; Wide nosePathogenicClinVarRCV000258633.2, VCV000267817.1
nssv17975581interchromosomal translocationMultipleMultipleAORTIC VALVE DISEASE 1; AOVD1; Abnormal number of hair whorls; Abnormal number of hair whorls; Aorta coarctation; Bicuspid aortic valve; Bicuspid aortic valve; Bilateral cryptorchidism; Bilateral cryptorchidism; COARCTATION OF AORTA; Coarctation of aorta; Coarctation of aorta; Downslanted palpebral fissures; Downslanted palpebral fissures; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypospadias, penile; Inguinal hernia; Inguinal hernia; Low-set, posteriorly rotated ears; Low-set, posteriorly rotated ears; Penile hypospadias; Short neck; Short neck; Smooth philtrum; Smooth philtrum; Strabismus; Strabismus; Thickened helices; Thickened helices; Thin vermilion border; Thin vermilion border; Wide intermamillary distance; Wide intermamillary distance; Wide nose; Wide nosePathogenicClinVarRCV000258633.2, VCV000267817.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreAssemblyReciprocitySequence IDChrStartStopstrand
nssv17975582RemappedPerfectGRCh38.p12First PassNC_000001.11Chr127,600,07327,600,073-
nssv17975581RemappedPerfectGRCh38.p12First PassNC_000001.11Chr127,600,08527,600,085+
nssv17975582RemappedPerfectGRCh38.p12First PassNC_000005.10Chr5139,330,062139,330,062+
nssv17975581RemappedPerfectGRCh38.p12First PassNC_000005.10Chr5139,330,068139,330,068-
nssv17975582Submitted genomicGRCh37 (hg19)NC_000001.10Chr127,926,58427,926,584-
nssv17975581Submitted genomicGRCh37 (hg19)NC_000001.10Chr127,926,59627,926,596+
nssv17975582Submitted genomicGRCh37 (hg19)NC_000005.9Chr5138,665,751138,665,751+
nssv17975581Submitted genomicGRCh37 (hg19)NC_000005.9Chr5138,665,757138,665,757-

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975582interchromosomal translocationde novoAORTIC VALVE DISEASE 1; AOVD1; Abnormal number of hair whorls; Abnormal number of hair whorls; Aorta coarctation; Bicuspid aortic valve; Bicuspid aortic valve; Bilateral cryptorchidism; Bilateral cryptorchidism; COARCTATION OF AORTA; Coarctation of aorta; Coarctation of aorta; Downslanted palpebral fissures; Downslanted palpebral fissures; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypospadias, penile; Inguinal hernia; Inguinal hernia; Low-set, posteriorly rotated ears; Low-set, posteriorly rotated ears; Penile hypospadias; Short neck; Short neck; Smooth philtrum; Smooth philtrum; Strabismus; Strabismus; Thickened helices; Thickened helices; Thin vermilion border; Thin vermilion border; Wide intermamillary distance; Wide intermamillary distance; Wide nose; Wide nosePathogenicClinVarRCV000258633.2, VCV000267817.1
nssv17975581interchromosomal translocationde novoAORTIC VALVE DISEASE 1; AOVD1; Abnormal number of hair whorls; Abnormal number of hair whorls; Aorta coarctation; Bicuspid aortic valve; Bicuspid aortic valve; Bilateral cryptorchidism; Bilateral cryptorchidism; COARCTATION OF AORTA; Coarctation of aorta; Coarctation of aorta; Downslanted palpebral fissures; Downslanted palpebral fissures; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; HYPERTELORISM; Hypertelorism; Hypertelorism; Hypospadias, penile; Inguinal hernia; Inguinal hernia; Low-set, posteriorly rotated ears; Low-set, posteriorly rotated ears; Penile hypospadias; Short neck; Short neck; Smooth philtrum; Smooth philtrum; Strabismus; Strabismus; Thickened helices; Thickened helices; Thin vermilion border; Thin vermilion border; Wide intermamillary distance; Wide intermamillary distance; Wide nose; Wide nosePathogenicClinVarRCV000258633.2, VCV000267817.1

No genotype data were submitted for this variant

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