A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16946743



Internal ID31850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30793672..30793723hg38UCSC Ensembl
chr4:30795294..30795345hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403106
Supporting Variants
Samples
Known GenesPCDH7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16946743
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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