A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458720



Internal ID15172099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49915478..49957657hg38UCSC Ensembl
Innerchr19:50418735..50460914hg19UCSC Ensembl
Innerchr19:55110547..55152726hg18UCSC Ensembl
Innerchr19:55110547..55152726hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3842180
hg1942180
hg1842180
hg1742180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535631
SamplesNINDS_67
Known GenesATF5, IL4I1, MIR4751, NUP62, SIGLEC11
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)nsv458720
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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