A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700044



Internal ID123710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:27468347..27468481hg38UCSC Ensembl
chr15:27713493..27713627hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511246
Supporting Variants
Samples
Known GenesGABRG3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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