A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714593



Internal ID138259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75075295..75083493hg38UCSC Ensembl
chr17:73071390..73079588hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg388199
hg198199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514330
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714593
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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