A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17128315



Internal ID21497718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131996994..131996994hg38UCSC Ensembl
chr5:131332687..131332687hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5633006
Supporting Variants
SamplesNA19238
Known GenesACSL6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17128315
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer