A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077424



Internal ID21410764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11267629..11267629hg38UCSC Ensembl
chr12:11420563..11420563hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5657712
Supporting Variants
SamplesHG00513
Known GenesPRB3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077424
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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