A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532127



Internal ID308056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9778095..9786041hg38UCSC Ensembl
chr17:9681412..9689358hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg387947
hg197947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711357
Samples
Known GenesDHRS7C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532127
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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