A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995435



Internal ID64390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40048231..40049102hg38UCSC Ensembl
chr7:40087830..40088701hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142581
Supporting Variants
Samples
Known GenesCDK13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995435
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.017171


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