A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002142



Internal ID69030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92072518..92075457hg38UCSC Ensembl
chr7:91701832..91704771hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg382940
hg192940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478544
Supporting Variants
Samples
Known GenesAKAP9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002142
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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