A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051112



Internal ID21183163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337073..109337073hg38UCSC Ensembl
chr8:110349302..110349302hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14015997
SamplesNA12878
Known GenesENY2
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)nsv3051112
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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