A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407053



Internal ID22464923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7598663..7599045hg38UCSC Ensembl
chr19:7663549..7663931hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932052
Supporting Variants
Samples
Known GenesCAMSAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407053
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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