A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378923



Internal ID22436793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30385345..30385582hg38UCSC Ensembl
chr17:28712363..28712600hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936913
Supporting Variants
Samples
Known GenesCPD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378923
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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