A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14038011



Internal ID21167942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47541739..47541804hg38UCSC Ensembl
chr11:47563291..47563356hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3064628
Supporting Variants
SamplesNA12878
Known GenesCELF1
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)nssv14038011
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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