A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394048



Internal ID22311871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31279959..31280289hg38UCSC Ensembl
chr1:31752806..31753136hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205693
Supporting Variants
SamplesNA19240
Known GenesSNRNP40
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394048
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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