A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963236



Internal ID18251791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60938013..60940083hg38UCSC Ensembl
Innerchr2:61165148..61167218hg19UCSC Ensembl
Innerchr2:61018652..61020722hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382071
hg192071
hg182071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173477, nssv2173475, nssv2173476, nssv2173468, nssv2173472, nssv2173473, nssv2173469, nssv2173474, nssv2173471, nssv2173470
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)nsv963236
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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