A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16997236



Internal ID65702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66748771..66896309hg38UCSC Ensembl
chr7:66213758..66361296hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38147539
hg19147539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477676
Supporting Variants
Samples
Known GenesGTF2IRD1P1, RABGEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16997236
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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