A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423079



Internal ID202105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75796602..75799160hg38UCSC Ensembl
chr1:76262287..76264845hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382559
hg192559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907425
Samples
Known GenesMSH4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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