A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962671



Internal ID18597914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32428185..32440763hg38UCSC Ensembl
Innerchr21:33800493..33813071hg19UCSC Ensembl
Innerchr21:32722364..32734942hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3812579
hg1912579
hg1812579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2247528, nssv2247532, nssv2247533, nssv2247531, nssv2247527, nssv2247529, nssv2247530, nssv2247534, nssv2247535, nssv2247526
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEVA1C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962671
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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