A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491653



Internal ID268885
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 StatusM
Merged Variants
Supporting Variantsnssv16996189
Samples
Known GenesNME8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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