A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101304



Internal ID21493294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5411652..5411652hg38UCSC Ensembl
chr18:5411651..5411651hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5656044
Supporting Variants
SamplesNA19238
Known GenesEPB41L3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101304
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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