A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18074682



Internal ID20641722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10060394..10063808hg38UCSC Ensembl
chr2:10200521..10203935hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383415
hg193415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341329
Supporting Variants
Samples
Known GenesCYS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18074682
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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