A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14435470



Internal ID22178540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55096089..55096370hg38UCSC Ensembl
chr4:55962256..55962537hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181198
Supporting Variants
SamplesHG00514
Known GenesKDR
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14435470
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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