A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194217



Internal ID21333114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46776357..46776357hg38UCSC Ensembl
chr1:47242029..47242029hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939293
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194217
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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