A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148249



Internal ID16001435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135698139..135736970hg38UCSC Ensembl
Innerchr9:138589985..138628816hg19UCSC Ensembl
Innerchr9:137729806..137768637hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3838832
hg1938832
hg1838832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615918
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)nssv1148249
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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