A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533327



Internal ID15157504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41522908..41951740hg38UCSC Ensembl
Innerchr13:42097044..42525876hg19UCSC Ensembl
Innerchr13:40995044..41423876hg18UCSC Ensembl
Innerchr13:40995044..41423876hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38428833
hg19428833
hg18428833
hg17428833
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455865
Supporting Variants
Samples1780862585_A
Known GenesMIR5006, VWA8
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)nssv533327
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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