A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045091



Internal ID21176928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37097755..37097755hg38UCSC Ensembl
chr22:37493795..37493795hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022295
SamplesNA12878
Known GenesTMPRSS6
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)nsv3045091
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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