A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492293



Internal ID269509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72526779..72850779hg38UCSC Ensembl
chr7:71991764..72321359hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38324001
hg19329596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998331
Samples
Known GenesMIR4650-1, MIR4650-2, SBDSP1, TYW1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492293
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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