A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534945



Internal ID15155693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50898871..51006167hg38UCSC Ensembl
Innerchr17:48976232..49083528hg19UCSC Ensembl
Innerchr17:46331231..46438527hg18UCSC Ensembl
Innerchr17:46331231..46438527hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38107297
hg19107297
hg18107297
hg17107297
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457825
Supporting Variants
Samples1780854328_A
Known GenesSPAG9
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)nssv534945
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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