A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077334



Internal ID18974569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2110500..2113001hg38UCSC Ensembl
chr19:2110499..2113000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765231
SamplesKWP1
Known GenesAP3D1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077334
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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