A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996739



Internal ID20563780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102039729..102040418hg38UCSC Ensembl
chr12:102433507..102434196hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471596
Supporting Variants
Samples
Known GenesCCDC53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996739
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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