A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365118



Internal ID22590787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9682829..9684634hg38UCSC Ensembl
chr12:9835425..9837230hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918705
Supporting Variants
Samples
Known GenesCLEC2D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365118
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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