A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146054



Internal ID345259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35736874..35752874hg38UCSC Ensembl
chr19:36227775..36243775hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723039
Samples
Known GenesIGFLR1, KMT2B, LIN37, PSENEN, U2AF1L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146054
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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