A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532065



Internal ID22401402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102611779..102611779hg38UCSC Ensembl
chr7:102252226..102252226hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401497
SamplesNA19240
Known GenesRASA4, RASA4B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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