A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456054



Internal ID15516119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:85968013..86001734hg38UCSC Ensembl
Innerchr13:86542148..86575869hg19UCSC Ensembl
Innerchr13:85440149..85473870hg18UCSC Ensembl
Innerchr13:85440149..85473870hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3833722
hg1933722
hg1833722
hg1733722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533471
SamplesHGDP00689
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)nsv456054
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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