A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998203



Internal ID20565243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21509676..21511389hg38UCSC Ensembl
chr12:21662610..21664323hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381714
hg191714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463078
Supporting Variants
Samples
Known GenesGOLT1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998203
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