A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398759



Internal ID22327062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179134919..179134919hg38UCSC Ensembl
chr5:178561920..178561920hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539334
Supporting Variants
SamplesNA19240
Known GenesADAMTS2
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)nssv14398759
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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