A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535538



Internal ID15503557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43125421hg38UCSC Ensembl
Innerchr19:43374601..43629573hg19UCSC Ensembl
Innerchr19:48066441..48321413hg18UCSC Ensembl
Innerchr19:48066441..48321413hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38254973
hg19254973
hg18254973
hg17254973
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458626
Supporting Variants
Samples1780862334_A
Known GenesPSG1, PSG11, PSG2, PSG6, PSG7
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)nssv535538
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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