A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830039



Internal ID22604974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46712760..46715729hg38UCSC Ensembl
chr1:47178432..47181401hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg382970
hg192970
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17466273
Samples
Known GenesEFCAB14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830039
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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