A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189288



Internal ID21327808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219901004..219901004hg38UCSC Ensembl
chr1:220074346..220074346hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953712
Supporting Variants
SamplesHG002
Known GenesRNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189288
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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