A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242845



Internal ID21690354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5990973..5990973hg38UCSC Ensembl
chr1:6051033..6051033hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714547
Supporting Variants
Samples
Known GenesNPHP4
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)nssv17242845
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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