A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18218558



Internal ID20785598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142749239..142760162hg38UCSC Ensembl
chr7:142457090..142468009hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3810924
hg1910920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427769
Supporting Variants
Samples
Known GenesPRSS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18218558
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.03648


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