A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3952105



Internal ID21372174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41947042..41947042hg38UCSC Ensembl
chr17:40103296..40103296hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384236
hg194236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15185431
SamplesHG002
Known GenesTTC25
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3952105
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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