A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978311



Internal ID22753246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30556875..30556875hg38UCSC Ensembl
chr19:31047782..31047782hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401694
Samples
Known GenesZNF536
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978311
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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