A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048867



Internal ID21180915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45890333..45890333hg38UCSC Ensembl
chr3:45931825..45931825hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14037570
SamplesNA12878
Known GenesCCR9, LZTFL1
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)nsv3048867
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