A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247573



Internal ID21695082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6199883..6199883hg38UCSC Ensembl
chr19:6199894..6199894hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720037
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17247573
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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