A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542151



Internal ID15511090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135698139..135746536hg38UCSC Ensembl
Innerchr9:138589985..138638382hg19UCSC Ensembl
Innerchr9:137729806..137778203hg18UCSC Ensembl
Innerchr9:135815930..135864327hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3848398
hg1948398
hg1848398
hg1748398
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466665
Supporting Variants
SamplesHGDP01351
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)nssv542151
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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