A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996883



Internal ID20563923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109820701..109824200hg38UCSC Ensembl
chr12:110258506..110262005hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490507
Supporting Variants
Samples
Known GenesTRPV4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996883
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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