A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457641



Internal ID15171020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3601921..3652130hg38UCSC Ensembl
Innerchr17:3505215..3555424hg19UCSC Ensembl
Innerchr17:3451964..3502173hg18UCSC Ensembl
Innerchr17:3451964..3502173hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3850210
hg1950210
hg1850210
hg1750210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv358n27
Supporting Variantsnssv534783
Samples1780854416_A
Known GenesCTNS, SHPK, TRPV1
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)nsv457641
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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