A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999971



Internal ID67559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70051590..70070557hg38UCSC Ensembl
chr7:69516576..69535543hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3818968
hg1918968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491319
Supporting Variants
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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