A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194200



Internal ID21333094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45539015..45539015hg38UCSC Ensembl
chr1:46004687..46004687hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934891
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194200
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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