A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554402



Internal ID22423263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7101112..7101112hg38UCSC Ensembl
chr12:7253708..7253708hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386279
SamplesNA19240
Known GenesC1RL
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)nsv3554402
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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