A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049391



Internal ID21181439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169229916..169230050hg38UCSC Ensembl
chr4:170151067..170151201hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1079n140
Supporting Variantsnssv14026322
SamplesNA12878
Known GenesSH3RF1
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)nsv3049391
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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