A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979366



Internal ID18614569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176400442..176407923hg38UCSC Ensembl
Innerchr2:177265170..177272651hg19UCSC Ensembl
Innerchr2:176973416..176980897hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg387482
hg197482
hg187482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765853, nssv2763753, nssv2766437, nssv2757832, nssv2757396, nssv2762354, nssv2760368, nssv2761603
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP00456
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979366
Frequency
Sample Size10
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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