A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084530



Internal ID20651570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24020077..24022508hg38UCSC Ensembl
chr2:24242947..24245378hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382432
hg192432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6355161
Supporting Variants
Samples
Known GenesMFSD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084530
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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