A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542020



Internal ID15504371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112953875..113021309hg38UCSC Ensembl
Innerchr9:115716155..115783589hg19UCSC Ensembl
Innerchr9:114755976..114823410hg18UCSC Ensembl
Innerchr9:112795710..112863144hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3867435
hg1967435
hg1867435
hg1767435
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466490
Supporting Variants
Samples1782681114_A
Known GenesZNF883
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)nssv542020
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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