A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077852



Internal ID18976847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:60001..63000hg38UCSC Ensembl
chr19:59999..63000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383000
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765701
SamplesKWP1
Known GenesWASH5P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077852
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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