A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455853



Internal ID15515918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30337394..30377377hg38UCSC Ensembl
Innerchr13:30911531..30951514hg19UCSC Ensembl
Innerchr13:29809531..29849514hg18UCSC Ensembl
Innerchr13:29809531..29849514hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3839984
hg1939984
hg1839984
hg1739984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533320
SamplesHGDP01023
Known GenesLINC00426
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)nsv455853
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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