A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207643



Internal ID20774683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74725737..74958478hg38UCSC Ensembl
chr2:74952864..75185605hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38232742
hg19232742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344313
Supporting Variants
Samples
Known GenesHK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207643
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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