A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457667



Internal ID15517732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10284612..10310725hg38UCSC Ensembl
Innerchr17:10187929..10214042hg19UCSC Ensembl
Innerchr17:10128654..10154767hg18UCSC Ensembl
Innerchr17:10128654..10154767hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3826114
hg1926114
hg1826114
hg1726114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534802
Samples1782681110_A
Known GenesMYH13
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)nsv457667
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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