A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910338



Internal ID7669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27587648..27588855hg38UCSC Ensembl
chr2:27810515..27811722hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381208
hg191208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140252
Supporting Variants
Samples
Known GenesZNF512
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910338
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002966


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