A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17128600



Internal ID21448807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180015619..180015745hg38UCSC Ensembl
chr5:179442619..179442745hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5574017
Supporting Variants
SamplesHG00864
Known GenesRNF130
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17128600
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