A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18044958



Internal ID20611998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10967478..10968041hg38UCSC Ensembl
chr19:11078154..11078717hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6527435
Supporting Variants
Samples
Known GenesSMARCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18044958
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00052


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