A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14032245



Internal ID21154486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29818422..29818478hg38UCSC Ensembl
chr22:30214411..30214467hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055692
Supporting Variants
SamplesCHM1
Known GenesASCC2
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)nssv14032245
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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