A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200383



Internal ID22349842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144314177..144314240hg38UCSC Ensembl
chr4:145235329..145235392hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14317440
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200383
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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