A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000552



Internal ID67946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103086223..103099645hg38UCSC Ensembl
chr7:102726670..102740092hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3813423
hg1913423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480266
Supporting Variants
Samples
Known GenesARMC10, NAPEPLD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000552
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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