A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533480



Internal ID15503732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92509593..92552174hg38UCSC Ensembl
Innerchr13:93161846..93204427hg19UCSC Ensembl
Innerchr13:91959847..92002428hg18UCSC Ensembl
Innerchr13:91959847..92002428hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3842582
hg1942582
hg1842582
hg1742582
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456069
Supporting Variants
Samples1780862404_A
Known GenesGPC5
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)nssv533480
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