A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456051



Internal ID15516116
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533470
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)nsv456051
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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