A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979230



Internal ID18614433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94802801..94806380hg38UCSC Ensembl
Innerchr2:95468546..95472125hg19UCSC Ensembl
Innerchr2:94832273..94835852hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383580
hg193580
hg183580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n82
Supporting Variantsnssv2675477, nssv2675482, nssv2675475, nssv2675479, nssv2675474, nssv2675478, nssv2675483, nssv2675476, nssv2675481, nssv2675480
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)nsv979230
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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