A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250748



Internal ID21698257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147674427..147674427hg38UCSC Ensembl
chr5:147053990..147053990hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728851
Supporting Variants
Samples
Known GenesJAKMIP2
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)nssv17250748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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