A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963765



Internal ID18599005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203314605..203319352hg38UCSC Ensembl
Innerchr2:204179328..204184075hg19UCSC Ensembl
Innerchr2:203887573..203892320hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg384748
hg194748
hg184748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2219179, nssv2219182, nssv2219180, nssv2219174, nssv2219176, nssv2219177, nssv2219183, nssv2219178, nssv2219175, nssv2219181
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963765
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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