A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186180



Internal ID21325002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43507400..43507400hg38UCSC Ensembl
chr19:44011552..44011552hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3928374
Supporting Variants
SamplesHG002
Known GenesETHE1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186180
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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