A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700145



Internal ID123811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40851245..40851491hg38UCSC Ensembl
chr15:41143443..41143689hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504341
Supporting Variants
Samples
Known GenesSPINT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003903


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