A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954460



Internal ID21374530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2035388..2035388hg38UCSC Ensembl
chr17:1938682..1938682hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15184833
SamplesHG002
Known GenesDPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954460
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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