A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944654



Internal ID30449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180679428..180679484hg38UCSC Ensembl
chr3:180397216..180397272hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443209
Supporting Variants
Samples
Known GenesCCDC39
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944654
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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