A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967047



Internal ID18602276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:107102941..107107223hg38UCSC Ensembl
Innerchr3:106821788..106826070hg19UCSC Ensembl
Innerchr3:108304478..108308760hg18UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg384283
hg194283
hg184283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2290230, nssv2290235, nssv2290236, nssv2290233, nssv2290237, nssv2290228, nssv2290229, nssv2290231, nssv2290234, nssv2290232
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)nsv967047
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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