A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998990



Internal ID20566030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31367738..31369161hg38UCSC Ensembl
chr12:31520672..31522095hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381424
hg191424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457272
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998990
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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