A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431552



Internal ID210327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95068726..95068777hg38UCSC Ensembl
chr13:95720980..95721031hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694480
Samples
Known GenesABCC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431552
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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