A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197065



Internal ID22346989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37037170..37037239hg38UCSC Ensembl
chr4:37038792..37038861hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452718, nssv14314858, nssv14314857, nssv14435420, nssv14314862, nssv14314861, nssv14314863, nssv14409162, nssv14314860, nssv14314859
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
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)nsv3197065
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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