A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414150



Internal ID22149528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49483710..49484034hg38UCSC Ensembl
chr10:50691756..50692080hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192120
Supporting Variants
SamplesHG00514
Known GenesERCC6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414150
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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