A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271494



Internal ID22185677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:82396444..82531363hg38UCSC Ensembl
Outerchr3:82445595..82580514hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38134920
hg19134920
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203664
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271494
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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