A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257179



Internal ID22118206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:50070817..50075168hg38UCSC Ensembl
Outerchr14:50537535..50541886hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg384352
hg194352
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212365
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257179
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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