A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268486



Internal ID22258730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120956070..120980769hg38UCSC Ensembl
Outerchr1:144274482..144297905hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3824700
hg1923424
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209869
Supporting Variants
SamplesNA19238
Known GenesLOC100288142
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268486
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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