A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966002



Internal ID18601232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13962527..13966070hg38UCSC Ensembl
Innerchr21:15334848..15338391hg19UCSC Ensembl
Innerchr21:14256719..14260262hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg383544
hg193544
hg183544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2679794, nssv2679793, nssv2679797, nssv2679796, nssv2679795, nssv2679799, nssv2679801, nssv2679800, nssv2679798, nssv2679802
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)nsv966002
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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