A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081970



Internal ID20649010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1965130..1965490hg38UCSC Ensembl
chr2:1968902..1969262hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343143
Supporting Variants
Samples
Known GenesMYT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081970
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00313


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