A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609530



Internal ID16050253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1753266..1829405hg38UCSC Ensembl
Innerchr8:1701432..1777571hg19UCSC Ensembl
Innerchr8:1688839..1764978hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3876140
hg1976140
hg1876140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11822n54
Supporting Variantsnssv1155947
Samples1782681313_A
Known GenesARHGEF10, CLN8, MIR596
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609530
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer