A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077484



Internal ID18973556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5942568..5945569hg38UCSC Ensembl
chr7:5982199..5985200hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771346
SamplesKWP1
Known GenesRSPH10B, RSPH10B2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077484
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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