A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400104



Internal ID22301017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132600767..132600767hg38UCSC Ensembl
chr6:132921906..132921906hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539717
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14400104
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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