A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345742



Internal ID21003295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40399829..40405974hg38UCSC Ensembl
chr2:40626969..40633114hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386146
hg196146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089788
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345742
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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