A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942848



Internal ID21362917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191398209..191398209hg38UCSC Ensembl
chr2:192262935..192262935hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15186205
SamplesHG002
Known GenesMYO1B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942848
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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