A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079463



Internal ID21442917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2191829..2191884hg38UCSC Ensembl
chr12:2300995..2301050hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5590117
Supporting Variants
SamplesHG00732
Known GenesCACNA1C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079463
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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