A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964143



Internal ID22739078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138827562..138827562hg38UCSC Ensembl
chr6:139148699..139148699hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410464
Samples
Known GenesECT2L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964143
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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