A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3941958



Internal ID21362030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217524878..217524878hg38UCSC Ensembl
chr1:217698220..217698220hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15189278
SamplesHG002
Known GenesGPATCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3941958
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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