A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963223



Internal ID18251778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37930010..37931922hg38UCSC Ensembl
Innerchr2:38157153..38159065hg19UCSC Ensembl
Innerchr2:38010657..38012569hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381913
hg191913
hg181913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2169467, nssv2169460, nssv2169465, nssv2169469, nssv2169468, nssv2169466, nssv2169461, nssv2169464, nssv2169462, nssv2169463
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRMDN2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963223
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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