A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961979



Internal ID18597225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94806380..94813158hg38UCSC Ensembl
Innerchr2:95472125..95478903hg19UCSC Ensembl
Innerchr2:94835852..94842630hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg386779
hg196779
hg186779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2675557, nssv2675561, nssv2675562, nssv2675560, nssv2675559, nssv2675563, nssv2675555, nssv2675556, nssv2675564, nssv2675558
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961979
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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