A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500441



Internal ID20873668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6080698..6084993hg38UCSC Ensembl
chr17:5984018..5988313hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg384296
hg194296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036577
Samples
Known GenesWSCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500441
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