A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979008



Internal ID18614211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62530543..62534917hg38UCSC Ensembl
Innerchr2:62757678..62762052hg19UCSC Ensembl
Innerchr2:62611182..62615556hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg384375
hg194375
hg184375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2174063, nssv2174067, nssv2174066, nssv2174068, nssv2174061, nssv2174060, nssv2174062, nssv2174064, nssv2174059, nssv2174065
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)nsv979008
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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