A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996708



Internal ID20563749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10093385..10094605hg38UCSC Ensembl
chr12:10245984..10247204hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381221
hg191221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473781
Supporting Variants
Samples
Known GenesCLEC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996708
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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