A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16946414



Internal ID31635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:26316916..26322916hg38UCSC Ensembl
chr4:26318538..26324538hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141046
Supporting Variants
Samples
Known GenesRBPJ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16946414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000647


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