A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384581



Internal ID22297399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156586449..156586449hg38UCSC Ensembl
chr1:156556241..156556241hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382533
hg192533
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536370
Supporting Variants
SamplesNA19240
Known GenesTTC24
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384581
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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