A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966001



Internal ID18601231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13959729..13962527hg38UCSC Ensembl
Innerchr21:15332050..15334848hg19UCSC Ensembl
Innerchr21:14253921..14256719hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2679747, nssv2679745, nssv2679751, nssv2679748, nssv2679744, nssv2679750, nssv2679746, nssv2679752, nssv2679749, nssv2679753
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)nsv966001
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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