A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275018



Internal ID22118405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:34934529..35013428hg38UCSC Ensembl
Outerchr4:34936151..35015050hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3878900
hg1978900
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207858
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275018
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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