A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541941



Internal ID15512665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:36856271..36885586hg38UCSC Ensembl
Innerchr9:36856268..36885583hg19UCSC Ensembl
Innerchr9:36846268..36875583hg18UCSC Ensembl
Innerchr9:36846268..36875583hg17UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3829316
hg1929316
hg1829316
hg1729316
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466387
Supporting Variants
SamplesNINDS_49
Known GenesMIR4540, PAX5
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)nssv541941
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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