A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537348



Internal ID15502116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132819608..132934501hg38UCSC Ensembl
Innerchr3:132538452..132653345hg19UCSC Ensembl
Innerchr3:134021142..134136035hg18UCSC Ensembl
Innerchr3:134021150..134136043hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38114894
hg19114894
hg18114894
hg17114894
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460856
Supporting Variants
Samples1780854159_A
Known GenesNPHP3-AS1
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)nssv537348
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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