A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447127



Internal ID22242759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88831523..88831523hg38UCSC Ensembl
chr16:88897931..88897931hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3556686
Supporting Variants
SamplesHG00733
Known GenesGALNS
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)nssv14447127
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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