A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18056695



Internal ID20623735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202650816..202651888hg38UCSC Ensembl
chr1:202619944..202621016hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317502
Supporting Variants
Samples
Known GenesSYT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18056695
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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