A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962672



Internal ID18597915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32445648..32454573hg38UCSC Ensembl
Innerchr21:33817956..33826881hg19UCSC Ensembl
Innerchr21:32739827..32748752hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg388926
hg198926
hg188926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2247627, nssv2247629, nssv2247628, nssv2247623, nssv2247630, nssv2247624, nssv2247632, nssv2247631, nssv2247626, nssv2247625
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)nsv962672
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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