A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967579



Internal ID18602807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:31217645..31220990hg38UCSC Ensembl
Innerchr8:31075161..31078506hg19UCSC Ensembl
Innerchr8:31194703..31198048hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383346
hg193346
hg183346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2499192, nssv2499189, nssv2499193, nssv2499187, nssv2499196, nssv2499190, nssv2499194, nssv2499195, nssv2499188, nssv2499191
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)nsv967579
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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