A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207292



Internal ID20774333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143819034..144199529hg38UCSC Ensembl
chr2:144576603..144957096hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38380496
hg19380494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348423
Supporting Variants
Samples
Known GenesGTDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207292
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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