A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873792



Internal ID22648740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2233202..2234368hg38UCSC Ensembl
chr17:2136496..2137662hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381167
hg191167
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17473007
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873792
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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