A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17473062



Internal ID22530954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30022463..30024481hg38UCSC Ensembl
chr17:28349481..28351499hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382019
hg192019
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877389
Supporting Variants
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17473062
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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