A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17155312



Internal ID21455315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73643943..73644049hg38UCSC Ensembl
chr5:72939768..72939874hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572727
Supporting Variants
SamplesHG02011
Known GenesARHGEF28
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17155312
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