A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179555



Internal ID20746595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71672496..71687949hg38UCSC Ensembl
chr12:72066276..72081729hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3815454
hg1915454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455597
Supporting Variants
Samples
Known GenesTHAP2, TMEM19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179555
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