A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189449



Internal ID21328293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243998721..243998721hg38UCSC Ensembl
chr1:244162023..244162023hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3925137
Supporting Variants
SamplesHG002
Known GenesLOC339529
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189449
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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