A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537048



Internal ID15502622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:31702741..31734262hg38UCSC Ensembl
Innerchr3:31744233..31775754hg19UCSC Ensembl
Innerchr3:31719237..31750758hg18UCSC Ensembl
Innerchr3:31719237..31750758hg17UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg3831522
hg1931522
hg1831522
hg1731522
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460485
Supporting Variants
Samples1780854465_A
Known GenesOSBPL10, OSBPL10-AS1
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)nssv537048
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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