A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727115



Internal ID21753436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160021499..160021499hg38UCSC Ensembl
chr5:159448506..159448506hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243578, nssv17244991
Samples
Known GenesTTC1
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)nsv5727115
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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