A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518032



Internal ID294429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19561179..19564811hg38UCSC Ensembl
chr17:19464492..19468124hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383633
hg193633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712012
Samples
Known GenesSLC47A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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