A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278846



Internal ID22126087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143485687..143568379hg38UCSC Ensembl
Outerchr8:144567857..144650549hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3882693
hg1982693
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211967
Supporting Variants
SamplesHG00512
Known GenesGSDMD, MROH6, ZC3H3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278846
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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