A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225088



Internal ID20792128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124031301..124034100hg38UCSC Ensembl
chr7:123671355..123674154hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6607435
Supporting Variants
Samples
Known GenesTMEM229A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225088
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