A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144813



Internal ID21451983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4035890..4035890hg38UCSC Ensembl
chr6:4036124..4036124hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5642772
Supporting Variants
SamplesHG01596
Known GenesPRPF4B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144813
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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