A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533304



Internal ID15508390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20398414..20521581hg38UCSC Ensembl
Innerchr13:20972553..21095720hg19UCSC Ensembl
Innerchr13:19870553..19993720hg18UCSC Ensembl
Innerchr13:19870553..19993720hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38123168
hg19123168
hg18123168
hg17123168
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455834
Supporting Variants
SamplesHGDP00814
Known GenesCRYL1, MIR4499
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)nssv533304
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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