A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531116



Internal ID307079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39154813..39168813hg38UCSC Ensembl
chr17:37311066..37325066hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713016
Samples
Known GenesARL5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531116
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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