A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206974



Internal ID20774014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68251401..68253900hg38UCSC Ensembl
chr2:68478533..68481032hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348695
Supporting Variants
Samples
Known GenesPPP3R1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206974
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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