A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432545



Internal ID22175421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10200533..10200593hg38UCSC Ensembl
chr2:10340659..10340719hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177005
Supporting Variants
SamplesHG00514
Known GenesC2orf48
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432545
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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