A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704411



Internal ID128077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:79863143..79863516hg38UCSC Ensembl
chr15:80155485..80155858hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531486
Supporting Variants
Samples
Known GenesMTHFS, ST20-MTHFS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704411
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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