A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974956



Internal ID22749891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:613590..613590hg38UCSC Ensembl
chr19:613590..613590hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408344
Samples
Known GenesHCN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974956
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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