A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17475918



Internal ID22533816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7512988..7513987hg38UCSC Ensembl
chr17:7416307..7417304hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381000
hg19998
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5867570
Supporting Variants
Samples
Known GenesPOLR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17475918
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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