A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208617



Internal ID22356827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69191558..69191794hg38UCSC Ensembl
chr4:70057276..70057512hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6675n152
Supporting Variantsnssv14411576
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)nsv3208617
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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