A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484088



Internal ID21141641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73773101..73781400hg38UCSC Ensembl
chr14:74239804..74248103hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg388300
hg198300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2200n223
Supporting Variantsnssv18020190
Samples
Known GenesELMSAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484088
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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