A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14026322



Internal ID21175242
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 StatusS
Merged Variantsnsv3049391
Supporting Variants
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)nssv14026322
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer