A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535544



Internal ID15502752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43158934hg38UCSC Ensembl
Innerchr19:43374601..43663086hg19UCSC Ensembl
Innerchr19:48066441..48354926hg18UCSC Ensembl
Innerchr19:48066441..48354926hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38288486
hg19288486
hg18288486
hg17288486
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458632
Supporting Variants
Samples1780854522_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)nssv535544
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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