A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14336547



Internal ID22322168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70531133..70531133hg38UCSC Ensembl
chr7:69996119..69996119hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564903
Supporting Variants
SamplesNA19240
Known GenesAUTS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14336547
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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