A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957596



Internal ID22732709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133439049..133439049hg38UCSC Ensembl
chr6:133760187..133760187hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419746
Samples
Known GenesEYA4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957596
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer