A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948115



Internal ID21368184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240536567..240536567hg38UCSC Ensembl
chr1:240699867..240699867hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15191122
SamplesHG002
Known GenesGREM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948115
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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