A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538246



Internal ID267816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104191595..104191597hg38UCSC Ensembl
chr7:103832043..103832045hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000855
Samples
Known GenesORC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538246
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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