A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712041



Internal ID135707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19907304..19908879hg38UCSC Ensembl
chr17:19810617..19812192hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381576
hg191576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519583
Supporting Variants
Samples
Known GenesAKAP10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712041
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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