A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377474



Internal ID22317103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128478452..128478669hg38UCSC Ensembl
chr7:128118506..128118723hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210519
Supporting Variants
SamplesNA19240
Known GenesMETTL2B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377474
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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