A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600497



Internal ID16041220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179212039..179259437hg38UCSC Ensembl
Innerchr5:178639040..178686438hg19UCSC Ensembl
Innerchr5:178571646..178619044hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3847399
hg1947399
hg1847399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1046312
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600497
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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