A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536408



Internal ID311886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75885671..75885703hg38UCSC Ensembl
chr1:76351356..76351388hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907434
Samples
Known GenesMSH4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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