A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253601



Internal ID22326714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:48000650..48006901hg38UCSC Ensembl
Outerchr1:48466322..48472573hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg386252
hg196252
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197717
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253601
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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