A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327430



Internal ID20860569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243401448..243407288hg38UCSC Ensembl
chr1:243564750..243570590hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385841
hg195841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059557
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327430
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