A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530395



Internal ID22399777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:156034460..156034460hg38UCSC Ensembl
chr6:156355594..156355594hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381485
hg191485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400769
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)nsv3530395
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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