A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048532



Internal ID21180579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15651142..15651616hg38UCSC Ensembl
chr19:15761952..15762426hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020116
SamplesNA12878
Known GenesCYP4F3
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3048532
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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