A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217107



Internal ID20784147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150826892..150878505hg38UCSC Ensembl
chr6:151148028..151199641hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3851614
hg1951614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6605301
Supporting Variants
Samples
Known GenesMTHFD1L, PLEKHG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217107
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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