A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984706



Internal ID21894049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75885930..75886054hg38UCSC Ensembl
chr1:76351615..76351739hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534273
Samples
Known GenesMSH4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984706
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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