A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16268736



Internal ID20477954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201111946..201111946hg38UCSC Ensembl
chr1:201081074..201081074hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757668
Supporting Variants
Samples
Known GenesCACNA1S
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16268736
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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