A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004463



Internal ID70612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141838001..141838058hg38UCSC Ensembl
chr7:141537801..141537858hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481744
Supporting Variants
Samples
Known GenesPRSS37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004463
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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