A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457859



Internal ID15171238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58305692..58319248hg38UCSC Ensembl
Innerchr17:56383053..56396609hg19UCSC Ensembl
Innerchr17:53738052..53751608hg18UCSC Ensembl
Innerchr17:53738052..53751608hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3813557
hg1913557
hg1813557
hg1713557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534967
Samples1780862081_A
Known GenesBZRAP1
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)nsv457859
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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