A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974207



Internal ID50179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127871010..127895049hg38UCSC Ensembl
chr5:127206702..127230741hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3824040
hg1924040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465592
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974207
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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