A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3044816



Internal ID21176352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238296583..238296583hg38UCSC Ensembl
chr2:239205224..239205224hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029550
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)nsv3044816
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