A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458347



Internal ID15518412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7112582..7205229hg38UCSC Ensembl
Innerchr19:7112593..7205240hg19UCSC Ensembl
Innerchr19:7063593..7156240hg18UCSC Ensembl
Innerchr19:7063593..7156240hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3892648
hg1992648
hg1892648
hg1792648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535290
SamplesHGDP01102
Known GenesINSR
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)nsv458347
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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