A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16268523



Internal ID20477741
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 StatusS
Merged Variantsnsv4758628
Supporting Variants
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16268523
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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