A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077338



Internal ID19318548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30063692..30068893hg38UCSC Ensembl
chr19:30554599..30559800hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385202
hg195202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763424
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077338
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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