A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503792



Internal ID20877048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42593435..42601358hg38UCSC Ensembl
chr17:40745453..40753376hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387924
hg197924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035640
Samples
Known GenesFAM134C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503792
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