A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075398



Internal ID18970452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152350123..152356424hg38UCSC Ensembl
chr1:152322599..152328900hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386302
hg196302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763007
SamplesKWP1
Known GenesFLG2, FLG-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075398
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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