A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970807



Internal ID22745742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4411597..4411597hg38UCSC Ensembl
chr19:4411594..4411594hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398827
Samples
Known GenesCHAF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970807
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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