A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486530



Internal ID263894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:69744840..69748329hg38UCSC Ensembl
chr7:69209826..69213315hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg383490
hg193490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999952
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486530
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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