A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16951005



Internal ID34700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52897585..52897661hg38UCSC Ensembl
chr4:53763752..53763828hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465411
Supporting Variants
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16951005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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