A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060221



Internal ID21191911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30752219..30752219hg38UCSC Ensembl
chr16:30763540..30763540hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029709
SamplesCHM1
Known GenesPHKG2
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)nsv3060221
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