A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189278



Internal ID21328120
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3941958
Supporting Variants
SamplesHG002
Known GenesGPATCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189278
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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