A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18038423



Internal ID20605463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7453305..7454905hg38UCSC Ensembl
chr17:7356624..7358224hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6505308
Supporting Variants
Samples
Known GenesCHRNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18038423
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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