A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457752



Internal ID15171131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46053939..46215654hg38UCSC Ensembl
Innerchr17:44131305..44293020hg19UCSC Ensembl
Innerchr17:41487141..41648797hg18UCSC Ensembl
Innerchr17:41487141..41648797hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38161716
hg19161716
hg18161657
hg17161657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv366n27
Supporting Variantsnssv534875
Samples1780862592_A
Known GenesKANSL1, KANSL1-AS1
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)nsv457752
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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