A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980644



Internal ID18615844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56129229..56140190hg38UCSC Ensembl
Innerchr5:55425056..55436017hg19UCSC Ensembl
Innerchr5:55460813..55471774hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3810962
hg1910962
hg1810962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2356474, nssv2356469, nssv2356470, nssv2356468, nssv2356467, nssv2356471, nssv2356473, nssv2356475, nssv2356476, nssv2356472
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD55
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980644
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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