A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5659325



Internal ID21607630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2682850..2682850hg38UCSC Ensembl
chr12:2792016..2792016hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381454
hg191454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079252
SamplesHG00731
Known GenesCACNA1C, CACNA1C-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5659325
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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