A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534946



Internal ID15504177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:51417214..51463767hg38UCSC Ensembl
Innerchr17:49494575..49541128hg19UCSC Ensembl
Innerchr17:46849574..46896127hg18UCSC Ensembl
Innerchr17:46849574..46896127hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3846554
hg1946554
hg1846554
hg1746554
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457826
Supporting Variants
Samples1780862584_A
Known Genes
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)nssv534946
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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