A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3928131



Internal ID21348200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52672314..52672314hg38UCSC Ensembl
chr6:52537112..52537112hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15202775
SamplesHG002
Known GenesTMEM14A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3928131
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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