A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962582



Internal ID18597825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47792155..47805338hg38UCSC Ensembl
Innerchr20:46420899..46434082hg19UCSC Ensembl
Innerchr20:45854306..45867489hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3813184
hg1913184
hg1813184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2238374, nssv2238379, nssv2238380, nssv2238373, nssv2238375, nssv2238376, nssv2238378, nssv2238381, nssv2238372, nssv2238377
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962582
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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