A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18221475



Internal ID20788515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70261684..70414648hg38UCSC Ensembl
chr7:69726670..69879634hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38152965
hg19152965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6607914
Supporting Variants
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18221475
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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