A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272803



Internal ID22193178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:66472126..66518751hg38UCSC Ensembl
Outerchr4:67337844..67384469hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3846626
hg1946626
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203643
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272803
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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