A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048757



Internal ID21180805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32931833..32931833hg38UCSC Ensembl
chr22:33327818..33327818hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017182
SamplesNA12878
Known GenesSYN3
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)nsv3048757
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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