A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282195



Internal ID22330656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144596540..144627869hg38UCSC Ensembl
Outerchr8:145821924..145853254hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3831330
hg1931331
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212171
Supporting Variants
SamplesNA19240
Known GenesARHGAP39
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282195
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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