A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148247



Internal ID15654747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135689001..135746536hg38UCSC Ensembl
Innerchr9:138580847..138638382hg19UCSC Ensembl
Innerchr9:137720668..137778203hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3857536
hg1957536
hg1857536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615916
Supporting Variants
Samples
Known GenesKCNT1, SOHLH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148247
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