A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542098



Internal ID15512104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:129434252..129484733hg38UCSC Ensembl
Innerchr9:132196531..132247012hg19UCSC Ensembl
Innerchr9:131236352..131286833hg18UCSC Ensembl
Innerchr9:129276085..129326566hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3850482
hg1950482
hg1850482
hg1750482
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466587
Supporting Variants
SamplesNINDS_200
Known Genes
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)nssv542098
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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