A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048759



Internal ID21180807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35343306..35343306hg38UCSC Ensembl
chr22:35739299..35739299hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034102
SamplesNA12878
Known GenesTOM1
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)nsv3048759
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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