A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5921549



Internal ID22696773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92510099..92510420hg38UCSC Ensembl
chr7:92139413..92139734hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441694
Samples
Known GenesPEX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5921549
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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