A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537573



Internal ID15506598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197066987..197183211hg38UCSC Ensembl
Innerchr3:196793858..196910082hg19UCSC Ensembl
Innerchr3:198278255..198394479hg18UCSC Ensembl
Innerchr3:198282168..198398392hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38116225
hg19116225
hg18116225
hg17116225
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461132
Supporting Variants
SamplesHGDP00529
Known GenesDLG1
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)nssv537573
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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