A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064328



Internal ID21195819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102601108..102601432hg38UCSC Ensembl
chr11:102471839..102472163hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv276n140
Supporting Variantsnssv14037954
SamplesNA12878
Known GenesMMP20
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)nsv3064328
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