A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412880



Internal ID22148123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937747..174938840hg38UCSC Ensembl
chr1:174906884..174907977hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177899
Supporting Variants
SamplesHG00514
Known GenesRABGAP1L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14412880
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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