A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980192



Internal ID18615392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34447523..34455908hg38UCSC Ensembl
Innerchr4:34449145..34457530hg19UCSC Ensembl
Innerchr4:34125540..34133925hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg388386
hg198386
hg188386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2316090, nssv2316091, nssv2316093, nssv2316092, nssv2316098, nssv2316094, nssv2316097, nssv2316089, nssv2316095, nssv2316096
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)nsv980192
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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