A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963382



Internal ID18598623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:181504811..181506843hg38UCSC Ensembl
Innerchr3:181222599..181224631hg19UCSC Ensembl
Innerchr3:182705293..182707325hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg382033
hg192033
hg182033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2306413, nssv2306414, nssv2306417, nssv2306416, nssv2306419, nssv2306421, nssv2306412, nssv2306420, nssv2306415, nssv2306418
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSOX2-OT
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963382
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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