A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723431



Internal ID147097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40708874..40776874hg38UCSC Ensembl
chr19:41214779..41282779hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3868001
hg1968001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144971
Supporting Variants
Samples
Known GenesADCK4, C19orf54, ITPKC, MIA, MIA-RAB4B, SNRPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723431
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000788


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