A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3939003



Internal ID21359072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69793493..69793493hg38UCSC Ensembl
chr3:69842644..69842644hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15189269
SamplesHG002
Known GenesMITF
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3939003
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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