A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249727



Internal ID21697236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43616322..43616322hg38UCSC Ensembl
chr19:44120474..44120474hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38809
hg19809
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715295
Supporting Variants
Samples
Known GenesZNF428
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)nssv17249727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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