A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610713



Internal ID16051436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18056608..18085527hg38UCSC Ensembl
Innerchr8:17914117..17943036hg19UCSC Ensembl
Innerchr8:17958397..17987316hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3828920
hg1928920
hg1828920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1107408
Samples
Known GenesASAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610713
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