A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963819



Internal ID18599059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94847098..94848296hg38UCSC Ensembl
Innerchr2:95512843..95514041hg19UCSC Ensembl
Innerchr2:94876570..94877768hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2668828, nssv2668831, nssv2668034, nssv2668832, nssv2668033, nssv2668035, nssv2668829, nssv2668032, nssv2668830, nssv2668833
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)nsv963819
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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