A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966904



Internal ID45268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74581386..75393871hg38UCSC Ensembl
chr5:73877211..74689696hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38812486
hg19812486
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560947
Supporting Variants
Samples
Known GenesANKRD31, COL4A3BP, ENC1, FAM169A, GCNT4, GFM2, HEXB, HMGCR, NSA2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966904
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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