A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1079034



Internal ID18977647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54896459..55127214hg38UCSC Ensembl
chr19:55407823..55638582hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38230756
hg19230760
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764656
SamplesKWP1
Known GenesEPS8L1, GP6, NCR1, NLRP2, NLRP7, PPP1R12C, RDH13, RNU6-35P, RNU6-64P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1079034
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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