A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970478



Internal ID18605700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54791409..54794468hg38UCSC Ensembl
Innerchr7:54859102..54862161hg19UCSC Ensembl
Innerchr7:54826596..54829655hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg383060
hg193060
hg183060
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2447237, nssv2447239, nssv2447243, nssv2447234, nssv2447241, nssv2447238, nssv2447236, nssv2447242, nssv2447235, nssv2447240
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)nsv970478
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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