A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206591



Internal ID20773631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137040672..137080492hg38UCSC Ensembl
chr2:137798242..137838062hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3839821
hg1939821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338282
Supporting Variants
Samples
Known GenesTHSD7B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206591
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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