A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1079019



Internal ID18976319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248430676..248661551hg38UCSC Ensembl
chr1:248593977..248824852hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38230876
hg19230876
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764420
SamplesKWP1
Known GenesOR2G6, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1079019
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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