A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946119



Internal ID21366189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112241152..112241152hg38UCSC Ensembl
chr6:112562353..112562353hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15202577
SamplesHG002
Known GenesLAMA4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946119
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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