A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273269



Internal ID22264815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181232725..181255471hg38UCSC Ensembl
Outerchr5:180659725..180682471hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3822747
hg1922747
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202370
Supporting Variants
SamplesNA19238
Known GenesGNB2L1, SNORD95, SNORD96A, TRIM41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273269
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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