A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965242



Internal ID18253790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185639726..185647539hg38UCSC Ensembl
Innerchr3:185357514..185365327hg19UCSC Ensembl
Innerchr3:186840208..186848021hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg387814
hg197814
hg187814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2300256, nssv2300258, nssv2300257, nssv2300251, nssv2300254, nssv2300250, nssv2300249, nssv2300253, nssv2300255, nssv2300252
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIGF2BP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965242
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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