A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965214



Internal ID18253762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:136735030..136739058hg38UCSC Ensembl
Innerchr3:136453872..136457900hg19UCSC Ensembl
Innerchr3:137936562..137940590hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg384029
hg194029
hg184029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2296867, nssv2296871, nssv2296875, nssv2296869, nssv2296872, nssv2296868, nssv2296874, nssv2296866, nssv2296873, nssv2296870
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTAG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965214
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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