A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271027



Internal ID22197729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84594810..84681990hg38UCSC Ensembl
Outerchr3:84643961..84731141hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3887181
hg1987181
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200291
Supporting Variants
SamplesHG00732
Known GenesLINC00971
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271027
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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