A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412806



Internal ID22148043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93876120..93878625hg38UCSC Ensembl
chr1:94341676..94344181hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382506
hg192506
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175292
Supporting Variants
SamplesHG00514
Known GenesDNTTIP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14412806
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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