A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972982



Internal ID22747917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28663828..28663828hg38UCSC Ensembl
chr17:26990846..26990846hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377074
Samples
Known GenesSUPT6H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972982
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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