A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961014



Internal ID18596261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5641601..5657386hg38UCSC Ensembl
Innerchr2:5781733..5797518hg19UCSC Ensembl
Innerchr2:5699184..5714969hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3815786
hg1915786
hg1815786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43n82
Supporting Variantsnssv2163437, nssv2163433, nssv2163435, nssv2163430, nssv2163431, nssv2163432, nssv2163434, nssv2163439, nssv2163438, nssv2163436
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)nsv961014
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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