A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947643



Internal ID21367712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39408925..39408925hg38UCSC Ensembl
chr4:39410545..39410545hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15200707
SamplesHG002
Known GenesKLB, MIR1273H
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947643
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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