A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078294



Internal ID18969502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66986680..66987090hg38UCSC Ensembl
chr1:67452363..67452773hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764947
SamplesKWP1
Known GenesMIER1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078294
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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