A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533449



Internal ID309340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45675541..45699724hg38UCSC Ensembl
chr19:46178799..46202982hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3824184
hg1924184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723598
Samples
Known GenesGIPR, QPCTL, SNRPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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