A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274473



Internal ID22294013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177442146..177464838hg38UCSC Ensembl
Outerchr4:178363300..178385992hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3822693
hg1922693
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198699
Supporting Variants
SamplesNA19240
Known GenesAGA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274473
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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