A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961611



Internal ID18596857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94802207..94806380hg38UCSC Ensembl
Innerchr2:95467952..95472125hg19UCSC Ensembl
Innerchr2:94831679..94835852hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg384174
hg194174
hg184174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n82
Supporting Variantsnssv2675404, nssv2675408, nssv2675411, nssv2675405, nssv2675407, nssv2675406, nssv2675410, nssv2675413, nssv2675409, nssv2675412
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)nsv961611
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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