A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271697



Internal ID22152185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125170694..125222841hg38UCSC Ensembl
Outerchr3:124889538..124941685hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3852148
hg1952148
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209787
Supporting Variants
SamplesHG00514
Known GenesSLC12A8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271697
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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