A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533300



Internal ID15157090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19700704..19865880hg38UCSC Ensembl
Innerchr13:20274844..20440020hg19UCSC Ensembl
Innerchr13:19172844..19338020hg18UCSC Ensembl
Innerchr13:19172844..19338020hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38165177
hg19165177
hg18165177
hg17165177
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455826
Supporting Variants
Samples1780862415_A
Known GenesPSPC1, ZMYM5
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)nssv533300
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer