A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538932



Internal ID22408104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186547093..186547093hg38UCSC Ensembl
chr4:187468247..187468247hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397394, nssv14424376
SamplesNA19240, HG00514
Known GenesMTNR1A
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)nsv3538932
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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