A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935071



Internal ID22710407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42014418..42015231hg38UCSC Ensembl
chr17:40166436..40167249hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374200
Samples
Known GenesDNAJC7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935071
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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