A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148252



Internal ID15654752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135711894..135777415hg38UCSC Ensembl
Innerchr9:138603740..138669261hg19UCSC Ensembl
Innerchr9:137743561..137809082hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3865522
hg1965522
hg1865522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615925
Supporting Variants
Samples
Known GenesKCNT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148252
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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