A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971310



Internal ID18606530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54696215..54699443hg38UCSC Ensembl
Innerchr8:55608775..55612003hg19UCSC Ensembl
Innerchr8:55771329..55774557hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383229
hg193229
hg183229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2503469, nssv2503464, nssv2503466, nssv2503467, nssv2503470, nssv2503461, nssv2503465, nssv2503462, nssv2503468, nssv2503463
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)nsv971310
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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