A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965201



Internal ID18253749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119791233..119792498hg38UCSC Ensembl
Innerchr3:119510080..119511345hg19UCSC Ensembl
Innerchr3:120992770..120994035hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381266
hg191266
hg181266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2294464, nssv2294469, nssv2294472, nssv2294467, nssv2294470, nssv2294465, nssv2294471, nssv2294468, nssv2294466, nssv2294463
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNR1I2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965201
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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