A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525612



Internal ID301765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12769835..12770890hg38UCSC Ensembl
chr17:12673152..12674207hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711512
Samples
Known GenesLOC100128006
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525612
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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