A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267708



Internal ID22135584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120311849..120584478hg38UCSC Ensembl
Outerchr1:144502183..144958722hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38272630
hg19456540
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210224
Supporting Variants
SamplesHG00513
Known GenesLOC100288142, LOC653513, LOC728875, NBPF8, NBPF9, PDE4DIP, PFN1P2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267708
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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