A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17477568



Internal ID22535469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30018642..30025723hg38UCSC Ensembl
chr17:28345660..28352741hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387082
hg197082
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877210
Supporting Variants
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17477568
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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