A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075191



Internal ID19324228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13382063..13447333hg38UCSC Ensembl
chr1:13693099..13773800hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3865271
hg1980702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770663
SamplesKWP1
Known GenesPRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075191
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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