A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082974



Internal ID20650014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206686725..206687291hg38UCSC Ensembl
chr2:207551449..207552015hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338508
Supporting Variants
Samples
Known GenesDYTN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082974
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00065


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