A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054050



Internal ID21186034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21291300..21291426hg38UCSC Ensembl
chr4:21292923..21293049hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023254
SamplesNA12878
Known GenesKCNIP4
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)nsv3054050
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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