A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380295



Internal ID22438165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1545018..1545125hg38UCSC Ensembl
chr17:1448312..1448419hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5927919
Supporting Variants
Samples
Known GenesPITPNA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380295
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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