A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6608385



Internal ID20981456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70206321..70210293hg38UCSC Ensembl
chr7:69671307..69675279hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg383973
hg193973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18222230
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6608385
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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