A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457635



Internal ID15171014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1554545..1638896hg38UCSC Ensembl
Innerchr17:1457839..1542190hg19UCSC Ensembl
Innerchr17:1404589..1488940hg18UCSC Ensembl
Innerchr17:1404589..1488940hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3884352
hg1984352
hg1884352
hg1784352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534778
Samples1780854465_A
Known GenesPITPNA, SCARF1, SLC43A2
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)nsv457635
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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