A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457407



Internal ID22251470
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 StatusS
Merged Variantsnsv3531096
Supporting Variants
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)nssv14457407
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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