A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405882



Internal ID185224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124782100..124782151hg38UCSC Ensembl
chr7:124422154..124422205hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001849
Samples
Known GenesLOC154872
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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