A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3933147



Internal ID21353217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139854666..139854666hg38UCSC Ensembl
chr4:140775820..140775820hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15200572
SamplesHG002
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3933147
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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