A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533470



Internal ID15506987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:85420565..85732317hg38UCSC Ensembl
Innerchr13:85994700..86306452hg19UCSC Ensembl
Innerchr13:84892701..85204453hg18UCSC Ensembl
Innerchr13:84892701..85204453hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38311753
hg19311753
hg18311753
hg17311753
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456051
Supporting Variants
SamplesHGDP00586
Known GenesLINC00351
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)nssv533470
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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