A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989988



Internal ID60735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150932843..150932864hg38UCSC Ensembl
chr6:151253979..151254000hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535357
Supporting Variants
Samples
Known GenesMTHFD1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989988
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.058763


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