A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399881



Internal ID22300089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138572247..138572247hg38UCSC Ensembl
chr5:137907936..137907936hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539944
Supporting Variants
SamplesNA19240
Known GenesHSPA9
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)nssv14399881
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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