A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979235



Internal ID18614438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94844001..94847098hg38UCSC Ensembl
Innerchr2:95509746..95512843hg19UCSC Ensembl
Innerchr2:94873473..94876570hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383098
hg193098
hg183098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2668002, nssv2667942, nssv2667946, nssv2667947, nssv2668006, nssv2667948, nssv2667999, nssv2667944, nssv2667950, nssv2668005, nssv2668001, nssv2668000, nssv2667949, nssv2667943, nssv2668004, nssv2668008, nssv2668003, nssv2667941, nssv2668007, nssv2667945
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979235
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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