A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273690



Internal ID22185706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:129660887..129684767hg38UCSC Ensembl
Outerchr5:128996580..129020460hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3823881
hg1923881
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195349
Supporting Variants
SamplesHG00731
Known GenesADAMTS19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273690
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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