A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541696



Internal ID22410786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78658227..78658227hg38UCSC Ensembl
chr7:78287543..78287543hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381761
hg191761
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401836
SamplesNA19240
Known GenesMAGI2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3541696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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