A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6075447



Internal ID21984680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70477895..70477895hg38UCSC Ensembl
chr7:69942881..69942881hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17563946
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6075447
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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