A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190767



Internal ID22341583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44543808..44548000hg38UCSC Ensembl
chr6:44511545..44515737hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384193
hg194193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14327209, nssv14327210
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190767
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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