A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963660



Internal ID18598900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94892468..94954664hg38UCSC Ensembl
Innerchr2:95558213..95620409hg19UCSC Ensembl
Innerchr2:94921940..94984136hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3862197
hg1962197
hg1862197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2187866, nssv2187865, nssv2187864, nssv2187862, nssv2187861, nssv2187859, nssv2187860, nssv2187867, nssv2187863, nssv2187868
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC442028
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963660
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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