A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978996



Internal ID18267513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38810331..38811755hg38UCSC Ensembl
Innerchr2:39037473..39038897hg19UCSC Ensembl
Innerchr2:38890977..38892401hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381425
hg191425
hg181425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2169795, nssv2169798, nssv2169799, nssv2169797, nssv2169791, nssv2169790, nssv2169794, nssv2169793, nssv2169792, nssv2169796
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDHX57
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978996
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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