A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271633



Internal ID22115941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195057104..195070349hg38UCSC Ensembl
Outerchr3:194777833..194791078hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3813246
hg1913246
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209499
Supporting Variants
SamplesHG00512
Known GenesXXYLT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271633
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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