A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144516



Internal ID343721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42208874..42304874hg38UCSC Ensembl
chr19:42713026..42809026hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3896001
hg1996001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725105
Samples
Known GenesCIC, DEDD2, ERF, GSK3A, PAFAH1B3, PRR19, ZNF526
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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