A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964516



Internal ID18599754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13957855..13958355hg38UCSC Ensembl
Innerchr21:15330176..15330676hg19UCSC Ensembl
Innerchr21:14252047..14252547hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2679643, nssv2679636, nssv2679642, nssv2679640, nssv2679639, nssv2679638, nssv2679645, nssv2679637, nssv2679644, nssv2679641
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)nsv964516
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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