A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974118



Internal ID18609331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:95694454..95699234hg38UCSC Ensembl
Innerchr13:96346708..96351488hg19UCSC Ensembl
Innerchr13:95144709..95149489hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg384781
hg194781
hg184781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1972212, nssv1972211, nssv1972208, nssv1972204, nssv1972206, nssv1972209, nssv1972205, nssv1972213, nssv1972207, nssv1972210
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAJC3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974118
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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