A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6375055



Internal ID21032608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129026309..129035055hg38UCSC Ensembl
chr3:128745152..128753898hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388747
hg198747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18093207
Samples
Known GenesEFCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6375055
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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