A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966291



Internal ID18601521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82127156..82130962hg38UCSC Ensembl
Innerchr4:83048309..83052115hg19UCSC Ensembl
Innerchr4:83267333..83271139hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg383807
hg193807
hg183807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2326651, nssv2326650, nssv2326658, nssv2326653, nssv2326659, nssv2326652, nssv2326655, nssv2326656, nssv2326654, nssv2326657
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)nsv966291
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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