A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560818



Internal ID333815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21646299..21646350hg38UCSC Ensembl
chr12:21799233..21799284hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053996
Samples
Known GenesLDHB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560818
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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