A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18024709



Internal ID20591749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48138043..48138715hg38UCSC Ensembl
chr15:48430240..48430912hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6510747
Supporting Variants
Samples
Known GenesSLC24A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18024709
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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