A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084543



Internal ID20651583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24041200..24042570hg38UCSC Ensembl
chr2:24264070..24265440hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381371
hg191371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335995
Supporting Variants
Samples
Known GenesC2orf44
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084543
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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