A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961612



Internal ID18596858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94823467..94825634hg38UCSC Ensembl
Innerchr2:95489212..95491379hg19UCSC Ensembl
Innerchr2:94852939..94855106hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg382168
hg192168
hg182168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2675287, nssv2667029, nssv2675292, nssv2667034, nssv2667038, nssv2675288, nssv2667031, nssv2675293, nssv2667036, nssv2675290, nssv2675289, nssv2675285, nssv2667032, nssv2675294, nssv2675286, nssv2667030, nssv2667035, nssv2667037, nssv2667033, nssv2675291
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)nsv961612
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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