A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938759



Internal ID22714144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27416037..27423899hg38UCSC Ensembl
chr17:25743063..25750925hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg387863
hg197863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377315
Samples
Known GenesTBC1D3P5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938759
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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