A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996946



Internal ID20563986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110842292..110843763hg38UCSC Ensembl
chr12:111280096..111281567hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381472
hg191472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478396
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996946
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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