A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506498



Internal ID20879779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103642868..103650582hg38UCSC Ensembl
chr14:104109205..104116919hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg387715
hg197715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18015935
Samples
Known GenesKLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506498
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