A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966000



Internal ID18601230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13958355..13959729hg38UCSC Ensembl
Innerchr21:15330676..15332050hg19UCSC Ensembl
Innerchr21:14252547..14253921hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg381375
hg191375
hg181375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2679699, nssv2679700, nssv2679697, nssv2679701, nssv2679696, nssv2679703, nssv2679702, nssv2679704, nssv2679698, nssv2679695
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)nsv966000
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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