A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385400



Internal ID22311967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48675437..48675524hg38UCSC Ensembl
chr10:49883482..49883569hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213900
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385400
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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