A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16997934



Internal ID66167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67113285..67123518hg38UCSC Ensembl
chr7:66578272..66588505hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3810234
hg1910234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491271
Supporting Variants
Samples
Known GenesMIR4650-1, MIR4650-2, TYW1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16997934
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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