A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049688



Internal ID21181737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35141270..35141350hg38UCSC Ensembl
chr19:35632174..35632254hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021839
SamplesNA12878
Known GenesFXYD1
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)nsv3049688
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