A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078613



Internal ID19318328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51817639..51820640hg38UCSC Ensembl
chr8:52730199..52733200hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766102
SamplesKWP1
Known GenesPCMTD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078613
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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