A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948560



Internal ID21368629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345556..53345556hg38UCSC Ensembl
chr6:53210354..53210354hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15202783
SamplesHG002
Known GenesELOVL5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948560
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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