A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125145



Internal ID21418265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6977649..6977728hg38UCSC Ensembl
chr4:6979376..6979455hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5579710
Supporting Variants
SamplesHG00731
Known GenesTBC1D14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125145
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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