A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234285



Internal ID20801325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20633701..20881000hg38UCSC Ensembl
chr7:20673324..20920619hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38247300
hg19247296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6619487
Supporting Variants
Samples
Known GenesABCB5, RPL23P8, SP8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234285
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00089


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