A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695972



Internal ID119638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60604466..60613285hg38UCSC Ensembl
chr14:61071184..61080003hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg388820
hg198820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509337
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695972
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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