A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427047



Internal ID22167706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:159816140..159816140hg38UCSC Ensembl
chr6:160237172..160237172hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543020
Supporting Variants
SamplesHG00514
Known GenesPNLDC1
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)nssv14427047
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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