A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148531



Internal ID21403538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131045318..131045318hg38UCSC Ensembl
chr6:131366458..131366458hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629041
Supporting Variants
SamplesHG00171
Known GenesEPB41L2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148531
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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