A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965244



Internal ID18600478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193153813..193156733hg38UCSC Ensembl
Innerchr3:192871602..192874522hg19UCSC Ensembl
Innerchr3:194354296..194357216hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382921
hg192921
hg182921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2307117, nssv2307116, nssv2307111, nssv2307114, nssv2307113, nssv2307109, nssv2307115, nssv2307112, nssv2307110, nssv2307118
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)nsv965244
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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