A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549227



Internal ID22418175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35007572..35007572hg38UCSC Ensembl
chr14:35476778..35476778hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444994
SamplesHG00733
Known GenesSRP54
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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