A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561430



Internal ID22430198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174703570..174703570hg38UCSC Ensembl
chr1:174672708..174672708hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295607, nssv14295608
SamplesHG00512, HG00514
Known GenesRABGAP1L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561430
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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