A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384670



Internal ID22442540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76743234..76743284hg38UCSC Ensembl
chr17:74739316..74739366hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937120
Supporting Variants
Samples
Known GenesMFSD11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384670
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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