A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963741



Internal ID18598981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161580430..161582507hg38UCSC Ensembl
Innerchr2:162436940..162439017hg19UCSC Ensembl
Innerchr2:162145186..162147263hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382078
hg192078
hg182078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2209315, nssv2209311, nssv2209309, nssv2209313, nssv2209310, nssv2209316, nssv2209312, nssv2209314, nssv2209307, nssv2209308
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963741
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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