A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17093856



Internal ID21483879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57090468..57090468hg38UCSC Ensembl
chr12:57484251..57484251hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5663076
Supporting Variants
SamplesNA12329
Known GenesNAB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17093856
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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