A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17124955



Internal ID21455964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50430135..50430135hg38UCSC Ensembl
chr3:50467566..50467566hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38963
hg19963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5617364
Supporting Variants
SamplesHG02492
Known GenesCACNA2D2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17124955
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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