A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531096



Internal ID22400460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:24905138..24905138hg38UCSC Ensembl
chr7:24944757..24944757hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457407
SamplesHG00733
Known GenesOSBPL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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