A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18038073



Internal ID20605113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78126173..78144655hg38UCSC Ensembl
chr17:76122254..76140736hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3818483
hg1918483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523939
Supporting Variants
Samples
Known GenesTMC6, TMC8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18038073
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