A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534860



Internal ID15157030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36075679..36109139hg38UCSC Ensembl
Innerchr17:34403039..34436532hg19UCSC Ensembl
Innerchr17:31427152..31460645hg18UCSC Ensembl
Innerchr17:31427152..31460645hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3833461
hg1933494
hg1833494
hg1733494
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457733
Supporting Variants
Samples1780862402_A
Known GenesCCL3, CCL4
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)nssv534860
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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