A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142033



Internal ID19254382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:81684542..81684599hg38UCSC Ensembl
Outerchr8:82596777..82596834hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993547, nssv3960928
SamplesKWS2, KWS1
Known GenesIMPA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142033
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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