A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140389



Internal ID19251417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117861499..117863419hg38UCSC Ensembl
Outerchr8:118873738..118875658hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381921
hg191921
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3890n106
Supporting Variantsnssv3987793, nssv3978753
SamplesKWS2, KWS1
Known GenesEXT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140389
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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