A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600503



Internal ID16041226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179301829..179509721hg38UCSC Ensembl
Innerchr5:178728830..178936722hg19UCSC Ensembl
Innerchr5:178661436..178869328hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38207893
hg19207893
hg18207893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10210n54
Supporting Variantsnssv1153618
SamplesHGDP01349
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600503
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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