A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712375



Internal ID136041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28708746..28708797hg38UCSC Ensembl
chr17:27035764..27035815hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424548
Supporting Variants
Samples
Known GenesPROCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.049868


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