A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750005



Internal ID20526040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181728950..181729064hg38UCSC Ensembl
chr1:181698086..181698200hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273808
Samples
Known GenesCACNA1E
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750005
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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