A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076648



Internal ID19323238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85714270..85828671hg38UCSC Ensembl
chr8:86726499..86840900hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38114402
hg19114402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768740
SamplesKWP1
Known GenesREXO1L1, REXO1L2P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076648
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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