A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188839



Internal ID20755879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7770716..7793845hg38UCSC Ensembl
chr12:7923312..7946441hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3823130
hg1923130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473551
Supporting Variants
Samples
Known GenesNANOG, NANOGNB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188839
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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