A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532957



Internal ID22402277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138338766..138338766hg38UCSC Ensembl
chr5:137674455..137674455hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3849974
hg1949974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424703
SamplesHG00514
Known GenesFAM53C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532957
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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