A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758628



Internal ID20534488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48270745..48270745hg38UCSC Ensembl
chr15:48562942..48562942hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16268523
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758628
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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