A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054574



Internal ID21186537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:106190926..106191839hg38UCSC Ensembl
chr10:107950684..107951597hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg38914
hg19914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv190n140
Supporting Variantsnssv14023151
SamplesNA12878
Known Genes
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)nsv3054574
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