A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457738



Internal ID6032081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37770005..37831035hg19UCSC Ensembl
Innerchr17:35023531..35084561hg18UCSC Ensembl
Innerchr17:35023531..35084561hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv534864
Samples1780862585_A
Known GenesPGAP3, PNMT, PPP1R1B, STARD3, TCAP
MethodSNP_genotyping_analysis
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 Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv457738
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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