A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457694



Internal ID15517759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15140682..15157290hg38UCSC Ensembl
Innerchr17:15043999..15060607hg19UCSC Ensembl
Innerchr17:14984724..15001332hg18UCSC Ensembl
Innerchr17:14984724..15001332hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3816609
hg1916609
hg1816609
hg1716609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv361n27
Supporting Variantsnssv534828
SamplesHGDP01240
Known Genes
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)nsv457694
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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