A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494340



Internal ID21151893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71661671..71663792hg38UCSC Ensembl
chr14:72128388..72130509hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382122
hg192122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18021026
Samples
Known GenesSIPA1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494340
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