A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458722



Internal ID15172101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50020969..50060642hg38UCSC Ensembl
Innerchr19:50524226..50563899hg19UCSC Ensembl
Innerchr19:55216038..55255711hg18UCSC Ensembl
Innerchr19:55216038..55255711hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3839674
hg1939674
hg1839674
hg1739674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535632
Samples1780862432_A
Known GenesFLJ26850, VRK3, ZNF473
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)nsv458722
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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