A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192162



Internal ID20759202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50757885..50759415hg38UCSC Ensembl
chr17:48835246..48836776hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381531
hg191531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532788
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192162
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