A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195349



Internal ID22345545
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273690
SamplesHG00731
Known GenesADAMTS19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195349
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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