A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542528



Internal ID316940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56345536..56345561hg38UCSC Ensembl
chr12:56739320..56739345hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057639
Samples
Known GenesSTAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542528
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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