A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440314



Internal ID22231102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97251791..97251791hg38UCSC Ensembl
chr10:99011548..99011548hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3544672
Supporting Variants
SamplesHG00733
Known GenesARHGAP19, ARHGAP19-SLIT1
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)nssv14440314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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