A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3941475



Internal ID21361544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49898239..49898239hg38UCSC Ensembl
chr12:50292022..50292022hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15192460
SamplesHG002
Known GenesFAIM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3941475
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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