A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939244



Internal ID22714634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28783757..28784045hg38UCSC Ensembl
chr17:27110775..27111063hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371875
Samples
Known GenesFAM222B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939244
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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