A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271757



Internal ID22314123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:95733144..95758800hg38UCSC Ensembl
Outerchr3:95451988..95477644hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3825657
hg1925657
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193818
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271757
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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