A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383685



Internal ID22288014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24344601..24345850hg38UCSC Ensembl
chr1:24671091..24672340hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203878
Supporting Variants
SamplesNA19240
Known GenesGRHL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14383685
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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