A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14411283



Internal ID22324605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147537804..147537856hg38UCSC Ensembl
chr4:148458956..148459008hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197914
Supporting Variants
SamplesNA19240
Known GenesEDNRA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14411283
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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