A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523939



Internal ID20897300
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 StatusM
Merged Variants
Supporting Variantsnssv18038073
Samples
Known GenesTMC6, TMC8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523939
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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