A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966749



Internal ID18255293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4997130..5058937hg38UCSC Ensembl
Innerchr7:5036761..5098568hg19UCSC Ensembl
Innerchr7:5003287..5065094hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3861808
hg1961808
hg1861808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2435062, nssv2435061, nssv2435060, nssv2435065, nssv2435066, nssv2435058, nssv2435063, nssv2435067, nssv2435064, nssv2435059
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRBAK, RBAK-RBAKDN, RNF216P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966749
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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