A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421924



Internal ID22160234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40749548..40749805hg38UCSC Ensembl
chr12:41143350..41143607hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201489
Supporting Variants
SamplesHG00514
Known GenesCNTN1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14421924
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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