A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192570



Internal ID22343132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6687301..6690500hg38UCSC Ensembl
chr4:6689028..6692227hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6429n152
Supporting Variantsnssv14434748, nssv14409102
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192570
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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