A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967053



Internal ID18602282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121847717..121849075hg38UCSC Ensembl
Innerchr3:121566564..121567922hg19UCSC Ensembl
Innerchr3:123049254..123050612hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381359
hg191359
hg181359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2293510, nssv2293512, nssv2293509, nssv2293503, nssv2293506, nssv2293511, nssv2293508, nssv2293507, nssv2293505, nssv2293504
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEAF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967053
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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