A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068714



Internal ID18972002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67755785..70855717hg38UCSC Ensembl
chr8:68668020..71767952hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383099933
hg193099933
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767603
SamplesKWP1
Known GenesC8orf34, LACTB2, LOC100505718, LOC286189, LOC286190, NCOA2, PRDM14, PREX2, SLCO5A1, SULF1, TRAM1, XKR9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068714
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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