A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6481941



Internal ID21139494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57268101..57269100hg38UCSC Ensembl
chr14:57734819..57735818hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18019816
Samples
Known GenesAP5M1, EXOC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6481941
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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