A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457660



Internal ID15171039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7880977..7952801hg38UCSC Ensembl
Innerchr17:7784295..7856119hg19UCSC Ensembl
Innerchr17:7725020..7796844hg18UCSC Ensembl
Innerchr17:7725020..7796844hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3871825
hg1971825
hg1871825
hg1771825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534796
Samples1780862399_A
Known GenesCHD3, CNTROB, KCNAB3, LOC284023, SCARNA21, TRAPPC1
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)nsv457660
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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