A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025248



Internal ID19114466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129620713..129728301hg38UCSC Ensembl
Innerchr5:128956406..129063994hg19UCSC Ensembl
Innerchr5:128984305..129091893hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38107589
hg19107589
hg18107589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648105
Samples
Known GenesADAMTS19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025248
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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