A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122619



Internal ID21496821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128441034..128442613hg38UCSC Ensembl
chr5:127776727..127778306hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5574019
Supporting Variants
SamplesNA19238
Known GenesFBN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122619
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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