A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536747



Internal ID22405970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138920169..138920169hg38UCSC Ensembl
chr7:138604915..138604915hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459125
SamplesHG00733
Known GenesKIAA1549
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3536747
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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