A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542152



Internal ID15512764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135698139..135761806hg38UCSC Ensembl
Innerchr9:138589985..138653652hg19UCSC Ensembl
Innerchr9:137729806..137793473hg18UCSC Ensembl
Innerchr9:135815930..135879597hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3863668
hg1963668
hg1863668
hg1763668
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466666
Supporting Variants
SamplesNINDS_60
Known GenesKCNT1, SOHLH1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv542152
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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