A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610756



Internal ID16051479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19576510..19614466hg38UCSC Ensembl
Innerchr8:19434021..19471977hg19UCSC Ensembl
Innerchr8:19478301..19516257hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3837957
hg1937957
hg1837957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1107467
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610756
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