A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976928



Internal ID18612134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43656668..43748688hg38UCSC Ensembl
Innerchr15:43948866..44040886hg19UCSC Ensembl
Innerchr15:41736158..41828178hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3892021
hg1992021
hg1892021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2021836, nssv2021838, nssv2021833, nssv2021839, nssv2021840, nssv2021832, nssv2021834, nssv2021835, nssv2021841, nssv2021837
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCATSPER2P1, CKMT1A, PDIA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976928
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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