A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498770



Internal ID275754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74120903..74130701hg38UCSC Ensembl
chr13:74695040..74704838hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg389799
hg199799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693206
Samples
Known GenesKLF12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498770
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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