A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929803



Internal ID22705062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30059659..30059967hg38UCSC Ensembl
chr17:28386677..28386985hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389416
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929803
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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