A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976985



Internal ID18612191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22567133..22570272hg38UCSC Ensembl
Innerchr15:23302824..23305963hg19UCSC Ensembl
Innerchr15:20854265..20857404hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg383140
hg193140
hg183140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2624533, nssv2624529, nssv2624525, nssv2624530, nssv2624527, nssv2624526, nssv2624532, nssv2624531, nssv2624534, nssv2624528
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHERC2P2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976985
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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