A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071516



Internal ID18975562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18203689..18208690hg38UCSC Ensembl
chr19:18314499..18319500hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg385002
hg195002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771580
SamplesKWP1
Known GenesPDE4C, RAB3A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071516
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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