A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17436547



Internal ID22494417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142747768..142769135hg38UCSC Ensembl
chr7:142455619..142475461hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3821368
hg1919843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5924118
Supporting Variants
Samples
Known GenesPRSS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17436547
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02


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