A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974874



Internal ID50628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124652609..124746056hg38UCSC Ensembl
chr5:123988302..124081749hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3893448
hg1993448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473457
Supporting Variants
Samples
Known GenesZNF608
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974874
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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