A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514934



Internal ID20888289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:79829659..79864706hg38UCSC Ensembl
chr15:80122001..80157048hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3835048
hg1935048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182436
Samples
Known GenesMTHFS, ST20-MTHFS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514934
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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