A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966764



Internal ID18601994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23491220..23494568hg38UCSC Ensembl
Innerchr7:23530839..23534187hg19UCSC Ensembl
Innerchr7:23497364..23500712hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg383349
hg193349
hg183349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2438854, nssv2438861, nssv2438862, nssv2438860, nssv2438859, nssv2438853, nssv2438857, nssv2438858, nssv2438856, nssv2438855
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS2P32
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966764
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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