A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548036



Internal ID22416997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10293157..10293157hg38UCSC Ensembl
chr12:10445756..10445756hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416463, nssv14385775, nssv14441780
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3548036
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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