A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077335



Internal ID18976338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5231988..5236389hg38UCSC Ensembl
chr19:5231999..5236400hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384402
hg194402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765485
SamplesKWP1
Known GenesPTPRS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077335
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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