A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3932643



Internal ID21352712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14347035..14347035hg38UCSC Ensembl
chr5:14347144..14347144hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15200967
SamplesHG002
Known GenesTRIO
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3932643
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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