A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533384



Internal ID15511848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68368715..68454349hg38UCSC Ensembl
Innerchr13:68942847..69028481hg19UCSC Ensembl
Innerchr13:67840848..67926482hg18UCSC Ensembl
Innerchr13:67840848..67926482hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3885635
hg1985635
hg1885635
hg1785635
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455936
Supporting Variants
SamplesNINDS_158
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)nssv533384
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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