A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061198



Internal ID21192856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102601125..102601441hg38UCSC Ensembl
chr11:102471856..102472172hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv276n140
Supporting Variantsnssv14026465
SamplesCHM1
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)nsv3061198
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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