A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535546



Internal ID15506008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43187166hg38UCSC Ensembl
Innerchr19:43374601..43691318hg19UCSC Ensembl
Innerchr19:48066441..48383158hg18UCSC Ensembl
Innerchr19:48066441..48383158hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38316718
hg19316718
hg18316718
hg17316718
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458634
Supporting Variants
SamplesHGDP00323
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)nssv535546
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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