A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701169



Internal ID124835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41947791..41947827hg38UCSC Ensembl
chr15:42239989..42240025hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416586
Supporting Variants
Samples
Known GenesEHD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17701169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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