A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998677



Internal ID20565717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38781001..38782400hg38UCSC Ensembl
chr12:39174803..39176202hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473270
Supporting Variants
Samples
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998677
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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