A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532143



Internal ID308072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53050850..53442009hg38UCSC Ensembl
chr19:53554103..53945262hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38391160
hg19391160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724266
Samples
Known GenesBIRC8, ERVV-2, FAM90A27P, TPM3P9, VN1R2, VN1R4, ZNF160, ZNF347, ZNF415, ZNF525, ZNF665, ZNF677, ZNF761, ZNF765, ZNF818P, ZNF845
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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