A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122645



Internal ID21511286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149327060..149327299hg38UCSC Ensembl
chr5:148706623..148706862hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5584033
Supporting Variants
SamplesNA24385
Known GenesAFAP1L1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122645
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