A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533440



Internal ID15512005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83360626..83447205hg38UCSC Ensembl
Innerchr13:83934761..84021340hg19UCSC Ensembl
Innerchr13:82832762..82919341hg18UCSC Ensembl
Innerchr13:82832762..82919341hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3886580
hg1986580
hg1886580
hg1786580
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456017
Supporting Variants
SamplesNINDS_183
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)nssv533440
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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