A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963229



Internal ID18598470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47685576..47702040hg38UCSC Ensembl
Innerchr2:47912715..47929179hg19UCSC Ensembl
Innerchr2:47766219..47782683hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3816465
hg1916465
hg1816465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2171367, nssv2171373, nssv2171368, nssv2171370, nssv2171375, nssv2171376, nssv2171374, nssv2171372, nssv2171371, nssv2171369
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)nsv963229
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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