A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6497803



Internal ID20871011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88708901..88709400hg38UCSC Ensembl
chr14:89175245..89175744hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18021608
Samples
Known GenesEML5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6497803
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer