A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491799



Internal ID269029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70544416..70548045hg38UCSC Ensembl
chr7:70009402..70013031hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg383630
hg193630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998009
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491799
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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