A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998933



Internal ID20565973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30478873..30486868hg38UCSC Ensembl
chr12:30631806..30639801hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387996
hg197996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465040
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998933
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