A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533334



Internal ID15155365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42985632..43029735hg38UCSC Ensembl
Innerchr13:43559768..43603871hg19UCSC Ensembl
Innerchr13:42457768..42501871hg18UCSC Ensembl
Innerchr13:42457768..42501871hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3844104
hg1944104
hg1844104
hg1744104
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455873
Supporting Variants
Samples1780854103_A
Known GenesDNAJC15, EPSTI1
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)nssv533334
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