A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996189



Internal ID64909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37891470..37897129hg38UCSC Ensembl
chr7:37931072..37936731hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385660
hg195660
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491653
Supporting Variants
Samples
Known GenesNME8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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