A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980220



Internal ID18615420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77081448..77083205hg38UCSC Ensembl
Innerchr4:78002601..78004358hg19UCSC Ensembl
Innerchr4:78221625..78223382hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381758
hg191758
hg181758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2325287, nssv2325294, nssv2325292, nssv2325295, nssv2325289, nssv2325288, nssv2325293, nssv2325296, nssv2325290, nssv2325291
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)nsv980220
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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