A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574348



Internal ID16361757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10284612..10310725hg38UCSC Ensembl
Innerchr17:10187929..10214042hg19UCSC Ensembl
Innerchr17:10128654..10154767hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3826114
hg1926114
hg1826114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149694
Samples1782681110_A
Known GenesMYH13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574348
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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