A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963348



Internal ID18598589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:101705597..101715633hg38UCSC Ensembl
Innerchr3:101424441..101434477hg19UCSC Ensembl
Innerchr3:102907131..102917167hg18UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg3810037
hg1910037
hg1810037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2292202, nssv2292196, nssv2292201, nssv2292195, nssv2292198, nssv2292200, nssv2292199, nssv2292203, nssv2292197, nssv2292204
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDCL3P4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963348
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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