A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894699



Internal ID22669774
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 StatusM
Merged Variants
Supporting Variantsnssv17409634
Samples
Known GenesCHCHD6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894699
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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