A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447388



Internal ID22505258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:69658556..69762421hg38UCSC Ensembl
chr7:69123542..69227407hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38103866
hg19103866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5926017
Supporting Variants
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447388
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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