A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979170



Internal ID18267687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206111688..206119787hg38UCSC Ensembl
Innerchr2:206976412..206984511hg19UCSC Ensembl
Innerchr2:206684657..206692756hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388100
hg198100
hg188100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2220355, nssv2220354, nssv2220358, nssv2220359, nssv2220361, nssv2220360, nssv2220356, nssv2220362, nssv2220357, nssv2220363
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGCSHP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979170
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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