A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544203



Internal ID22413245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2148803..2148803hg38UCSC Ensembl
chr11:2170033..2170033hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442589
SamplesHG00733
Known GenesIGF2, INS-IGF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544203
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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