A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275034



Internal ID22193998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:61061990..61138224hg38UCSC Ensembl
Outerchr4:61927708..62003942hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3876235
hg1976235
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190619
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275034
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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