A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436682



Internal ID215292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7843247..7974036hg38UCSC Ensembl
chr4:7844974..7975763hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38130790
hg19130790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16947664
Samples
Known GenesABLIM2, AFAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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