A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444136



Internal ID22227234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28065602..28065602hg38UCSC Ensembl
chr13:28639739..28639739hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554058
Supporting Variants
SamplesHG00733
Known GenesFLT3
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)nssv14444136
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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