A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220767



Internal ID20787807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87677301..87862700hg38UCSC Ensembl
chr7:87306617..87492015hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38185400
hg19185399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6619091
Supporting Variants
Samples
Known GenesABCB1, RUNDC3B, SLC25A40
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220767
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02635


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