A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964045



Internal ID18599283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56355042..56360788hg38UCSC Ensembl
Innerchr4:57221208..57226954hg19UCSC Ensembl
Innerchr4:56915965..56921711hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385747
hg195747
hg185747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2319887, nssv2319889, nssv2319892, nssv2319893, nssv2319890, nssv2319894, nssv2319896, nssv2319888, nssv2319891, nssv2319895
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAASDH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964045
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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