A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208391



Internal ID20775431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239693567..240452089hg38UCSC Ensembl
chr2:240615261..241391506hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38758523
hg19776246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346966
Supporting Variants
Samples
Known GenesGPC1, LOC150935, MIR4786, MYEOV2, NDUFA10, OR6B2, OR6B3, OTOS, PP14571, PRR21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208391
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