A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961892



Internal ID18597138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137931585..137944121hg38UCSC Ensembl
Innerchr2:138689155..138701691hg19UCSC Ensembl
Innerchr2:138405625..138418161hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3812537
hg1912537
hg1812537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2205751, nssv2205758, nssv2205757, nssv2205752, nssv2205753, nssv2205759, nssv2205756, nssv2205754, nssv2205750, nssv2205755
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)nsv961892
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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