A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549522



Internal ID22418466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124840032..124840032hg38UCSC Ensembl
chr12:125324578..125324578hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415784, nssv14386694, nssv14444193
SamplesNA19240, HG00733, HG00514
Known GenesSCARB1
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)nsv3549522
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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