A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203491



Internal ID22352493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77075941..77075993hg38UCSC Ensembl
chr5:76371766..76371818hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321830, nssv14321831, nssv14411418
SamplesNA19238, NA19240
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203491
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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