A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963757



Internal ID18252311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197486354..197489175hg38UCSC Ensembl
Innerchr2:198351078..198353899hg19UCSC Ensembl
Innerchr2:198059323..198062144hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382822
hg192822
hg182822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2215140, nssv2215131, nssv2215133, nssv2215134, nssv2215137, nssv2215138, nssv2215135, nssv2215132, nssv2215139, nssv2215136
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSPD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963757
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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