A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437867



Internal ID216447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47804054..47804319hg38UCSC Ensembl
chr2:48031193..48031458hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912677
Samples
Known GenesMSH6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437867
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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