A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18064403



Internal ID20631443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84119029..84119622hg38UCSC Ensembl
chr1:84584712..84585305hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322087
Supporting Variants
Samples
Known GenesPRKACB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18064403
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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