A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963817



Internal ID18599057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94834670..94838374hg38UCSC Ensembl
Innerchr2:95500415..95504119hg19UCSC Ensembl
Innerchr2:94864142..94867846hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383705
hg193705
hg183705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2666952, nssv2666957, nssv2666949, nssv2666954, nssv2666955, nssv2666956, nssv2666953, nssv2666951, nssv2666950, nssv2666948
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)nsv963817
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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