A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535557



Internal ID15511681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43191688hg38UCSC Ensembl
Innerchr19:43374601..43695840hg19UCSC Ensembl
Innerchr19:48066441..48387680hg18UCSC Ensembl
Innerchr19:48066441..48387680hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38321240
hg19321240
hg18321240
hg17321240
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458645
Supporting Variants
SamplesNINDS_13
Known GenesPSG1, PSG11, PSG2, PSG5, 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)nssv535557
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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