A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6477843



Internal ID21135396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70184812..70486551hg38UCSC Ensembl
chr14:70651529..70953268hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38301740
hg19301740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18021245
Samples
Known GenesADAM20P1, ADAM21, ADAM21P1, COX16, SLC8A3, SYNJ2BP, SYNJ2BP-COX16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6477843
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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