A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979556



Internal ID18614758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13941688..13946407hg38UCSC Ensembl
Innerchr21:15314009..15318728hg19UCSC Ensembl
Innerchr21:14235880..14240599hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg384720
hg194720
hg184720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2680102, nssv2680110, nssv2680107, nssv2680104, nssv2680103, nssv2680109, nssv2680105, nssv2680108, nssv2680111, nssv2680106
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A11P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979556
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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