A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953367



Internal ID22728656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83622696..83622696hg38UCSC Ensembl
chr6:84332415..84332415hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433120
Samples
Known GenesSNAP91
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953367
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