A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256330



Internal ID22117966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143408487..143420405hg38UCSC Ensembl
Outerchr1:148932588..148944529hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3811919
hg1911942
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202683
Supporting Variants
SamplesHG00512
Known GenesLOC101929780, LOC645166
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256330
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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