A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402042



Internal ID22459912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123959737..123959828hg38UCSC Ensembl
chr3:123678584..123678675hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889771
Supporting Variants
Samples
Known GenesCCDC14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402042
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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