A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723040



Internal ID146706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35746874..35754874hg38UCSC Ensembl
chr19:36237775..36245775hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145223
Supporting Variants
Samples
Known GenesHSPB6, LIN37, PSENEN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000508


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