A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050526



Internal ID21182576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240344..1240397hg38UCSC Ensembl
chr4:1234132..1234185hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033288
SamplesNA12878
Known GenesCTBP1
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)nsv3050526
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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