A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062408



Internal ID21491635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201111922..201111922hg38UCSC Ensembl
chr1:201081050..201081050hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622851
Supporting Variants
SamplesNA19238
Known GenesCACNA1S
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062408
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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