A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18169193



Internal ID20736233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56389429..56393775hg38UCSC Ensembl
chr8:57301988..57306334hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg384347
hg194347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6433282
Supporting Variants
Samples
Known GenesSDR16C6P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18169193
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