A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140373



Internal ID19258577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133385168..133410619hg38UCSC Ensembl
Outerchr6:133706306..133731757hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3825452
hg1925452
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962878, nssv3979080
SamplesKWS2, KWS1
Known GenesEYA4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140373
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer