A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196529



Internal ID22346524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125170694..125221245hg38UCSC Ensembl
Outerchr3:124889538..124940089hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3850552
hg1950552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6134n152
Supporting Variantsnssv14271091, nssv14271090
SamplesHG00512, HG00731
Known GenesSLC12A8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196529
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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