A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560947



Internal ID333939
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 StatusM
Merged Variants
Supporting Variantsnssv16966904
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)nsv5560947
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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