A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466487



Internal ID15179866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112305317..112382301hg38UCSC Ensembl
Innerchr9:115067597..115144581hg19UCSC Ensembl
Innerchr9:114107418..114184402hg18UCSC Ensembl
Innerchr9:112147152..112224136hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3876985
hg1976985
hg1876985
hg1776985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542017
SamplesNINDS_272
Known GenesHSDL2, MIR3134, PTBP3
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)nsv466487
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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