A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979141



Internal ID18614344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161499355..161507625hg38UCSC Ensembl
Innerchr2:162355866..162364136hg19UCSC Ensembl
Innerchr2:162064112..162072382hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg388271
hg198271
hg188271
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2209229, nssv2209228, nssv2209233, nssv2209236, nssv2209232, nssv2209227, nssv2209234, nssv2209231, nssv2209235, nssv2209230
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAHCTF1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979141
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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