A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999988



Internal ID67571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70235553..70237422hg38UCSC Ensembl
chr7:69700539..69702408hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381870
hg191870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142654
Supporting Variants
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999988
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer