A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978988



Internal ID18614191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27740527..27747755hg38UCSC Ensembl
Innerchr2:27963394..27970622hg19UCSC Ensembl
Innerchr2:27816898..27824126hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg387229
hg197229
hg187229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2168130, nssv2168128, nssv2168129, nssv2168122, nssv2168121, nssv2168125, nssv2168123, nssv2168124, nssv2168127, nssv2168126
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978988
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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