A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255004



Internal ID22144561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24189055..24215119hg38UCSC Ensembl
Outerchr1:24515545..24541609hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3826065
hg1926065
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203435
Supporting Variants
SamplesHG00514
Known GenesLOC284632
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255004
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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