A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17475121



Internal ID22533016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5435774..5436773hg38UCSC Ensembl
chr17:5339094..5340093hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875042
Supporting Variants
Samples
Known GenesC1QBP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17475121
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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