A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493719



Internal ID270888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112544960..112549602hg38UCSC Ensembl
chr7:112185015..112189657hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg384643
hg194643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004184
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493719
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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