A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963756



Internal ID18598996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:191174456..191176821hg38UCSC Ensembl
Innerchr2:192039182..192041547hg19UCSC Ensembl
Innerchr2:191747427..191749792hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg382366
hg192366
hg182366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2215507, nssv2215502, nssv2215500, nssv2215504, nssv2215501, nssv2215505, nssv2215506, nssv2215503, nssv2215499, nssv2215508
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)nsv963756
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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