A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961891



Internal ID18597137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137883095..137929779hg38UCSC Ensembl
Innerchr2:138640665..138687349hg19UCSC Ensembl
Innerchr2:138357135..138403819hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3846685
hg1946685
hg1846685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2206175, nssv2206177, nssv2206172, nssv2206178, nssv2206181, nssv2206179, nssv2206174, nssv2206176, nssv2206180, nssv2206173
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)nsv961891
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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