A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274696



Internal ID22198320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:106665940..106703561hg38UCSC Ensembl
Outerchr5:106001641..106039262hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3837622
hg1937622
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205284
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274696
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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