A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533303



Internal ID15508432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20398414..20486803hg38UCSC Ensembl
Innerchr13:20972553..21060942hg19UCSC Ensembl
Innerchr13:19870553..19958942hg18UCSC Ensembl
Innerchr13:19870553..19958942hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3888390
hg1988390
hg1888390
hg1788390
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455833
Supporting Variants
SamplesHGDP00821
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)nssv533303
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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