A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553516



Internal ID22422397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872841..50872841hg38UCSC Ensembl
chr12:51266624..51266624hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415677
SamplesHG00514
Known GenesTMPRSS12
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)nsv3553516
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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