A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14029902



Internal ID21162551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:115095627..115095736hg38UCSC Ensembl
chr9:117857906..117858015hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3050743
Supporting Variants
SamplesNA12878
Known GenesTNC
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)nssv14029902
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