A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961517



Internal ID18596763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:136198915..136205942hg38UCSC Ensembl
Innerchr2:136956485..136963512hg19UCSC Ensembl
Innerchr2:136672955..136679982hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg387028
hg197028
hg187028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2205931, nssv2205935, nssv2205929, nssv2205936, nssv2205927, nssv2205930, nssv2205928, nssv2205933, nssv2205932, nssv2205934
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)nsv961517
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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