A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434117



Internal ID22491987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157155846..157157604hg38UCSC Ensembl
chr7:156948540..156950298hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918487
Supporting Variants
Samples
Known GenesUBE3C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434117
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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