A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533496



Internal ID15502665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99421411..99440877hg38UCSC Ensembl
Innerchr13:100073665..100093131hg19UCSC Ensembl
Innerchr13:98871666..98891132hg18UCSC Ensembl
Innerchr13:98871666..98891132hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3819467
hg1919467
hg1819467
hg1719467
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456092
Supporting Variants
Samples1780854483_A
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)nssv533496
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer