A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728230



Internal ID21754551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156599164..156599164hg38UCSC Ensembl
chr1:156568956..156568956hg19UCSC Ensembl
Cytoband1q23.1
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 Variantsnssv17243488
Samples
Known GenesGPATCH4
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)nsv5728230
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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