A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3938680



Internal ID21358749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979613..113979613hg38UCSC Ensembl
chr2:114737190..114737190hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187546
SamplesHG002
Known GenesLOC100499194, LOC440900
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3938680
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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