A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542117



Internal ID15506237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133633021..133640119hg38UCSC Ensembl
Innerchr9:136498143..136505241hg19UCSC Ensembl
Innerchr9:135487964..135495062hg18UCSC Ensembl
Innerchr9:133527697..133534795hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg387099
hg197099
hg187099
hg177099
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466615
Supporting Variants
SamplesHGDP00445
Known GenesDBH
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)nssv542117
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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