A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18037750



Internal ID20604790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64076868..64077946hg38UCSC Ensembl
chr17:62154228..62155306hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg381079
hg191079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6531249
Supporting Variants
Samples
Known GenesERN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18037750
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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