A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414234



Internal ID22472104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47168929..47168995hg38UCSC Ensembl
chr4:47170946..47171012hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894213
Supporting Variants
Samples
Known GenesGABRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414234
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