A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480269



Internal ID257778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70524538..70530500hg38UCSC Ensembl
chr7:69989524..69995486hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg385963
hg195963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998006
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480269
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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