A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970645



Internal ID22745580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52458468..52458468hg38UCSC Ensembl
chr19:52961721..52961721hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392907
Samples
Known GenesZNF578
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970645
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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