A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456064



Internal ID15516129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:89776939..90233824hg38UCSC Ensembl
Innerchr13:90429193..90886078hg19UCSC Ensembl
Innerchr13:89227194..89684079hg18UCSC Ensembl
Innerchr13:89227194..89684079hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38456886
hg19456886
hg18456886
hg17456886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533477
SamplesNINDS_165
Known GenesLINC00559, MIR622
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)nsv456064
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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