A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999442



Internal ID20566483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18177054..18177451hg38UCSC Ensembl
chr12:18329988..18330385hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473607
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999442
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00041


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