A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412888



Internal ID192188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:142678003..142678054hg38UCSC Ensembl
chr4:143599156..143599207hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956424
Samples
Known GenesINPP4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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