A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409634



Internal ID22467504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126793114..126809031hg38UCSC Ensembl
chr3:126511957..126527874hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3815918
hg1915918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894699
Supporting Variants
Samples
Known GenesCHCHD6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409634
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