A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521702



Internal ID297987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20472055..20702000hg38UCSC Ensembl
chr17:20375368..20605313hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38229946
hg19229946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712089
Samples
Known GenesCDRT15L2, KRT16P3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521702
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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