A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6618943



Internal ID20992014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147387294..147388161hg38UCSC Ensembl
chr6:147708430..147709297hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18141161
Samples
Known GenesSTXBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6618943
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