A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462071



Internal ID240006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148361989..148371410hg38UCSC Ensembl
chr6:148683125..148692546hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg389422
hg199422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989292
Samples
Known GenesSASH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462071
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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