A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483430



Internal ID260865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126996312..127043978hg38UCSC Ensembl
chr7:126636366..126684032hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3847667
hg1947667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003504
Samples
Known GenesGRM8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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