A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230262



Internal ID22371837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137439701..137452800hg38UCSC Ensembl
chr9:140334153..140347252hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3813100
hg1913100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9847n152
Supporting Variantsnssv14388953
SamplesNA19240
Known GenesENTPD8, MIR7114, NSMF
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230262
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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