A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16997339



Internal ID65768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44221432..44221560hg38UCSC Ensembl
chr7:44261031..44261159hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492185
Supporting Variants
Samples
Known GenesCAMK2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16997339
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.011239


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