A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000834



Internal ID20567874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:369012..372128hg38UCSC Ensembl
chr12:478178..481294hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383117
hg193117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6468450
Supporting Variants
Samples
Known GenesKDM5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000834
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