A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6490507



Internal ID21148060
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 StatusM
Merged Variants
Supporting Variantsnssv17996883
Samples
Known GenesTRPV4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6490507
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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