A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998360



Internal ID20565400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22663701..22665300hg38UCSC Ensembl
chr12:22816635..22818234hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466376
Supporting Variants
Samples
Known GenesETNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998360
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00034


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