A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060513



Internal ID20627553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42980592..42987601hg38UCSC Ensembl
chr1:43446263..43453272hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387010
hg197010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332383
Supporting Variants
Samples
Known GenesSLC2A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060513
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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