A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968237



Internal ID18603465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119546286..119548013hg38UCSC Ensembl
Innerchr5:118881981..118883708hg19UCSC Ensembl
Innerchr5:118909880..118911607hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381728
hg191728
hg181728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2374122, nssv2374118, nssv2374126, nssv2374127, nssv2374121, nssv2374123, nssv2374119, nssv2374124, nssv2374120, nssv2374125
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)nsv968237
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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