A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451974



Internal ID22246943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185240366..185240366hg38UCSC Ensembl
chr4:186161520..186161520hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558035
Supporting Variants
SamplesHG00733
Known GenesSNX25
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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