A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974228



Internal ID22749163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2035388..2035388hg38UCSC Ensembl
chr17:1938682..1938682hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372411
Samples
Known GenesDPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974228
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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