A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961422



Internal ID18596668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77669341..77691038hg38UCSC Ensembl
Innerchr2:77896467..77918164hg19UCSC Ensembl
Innerchr2:77749975..77771672hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3821698
hg1921698
hg1821698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2179339, nssv2179341, nssv2179337, nssv2179335, nssv2179333, nssv2179336, nssv2179338, nssv2179334, nssv2179340, nssv2179332
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)nsv961422
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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