A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057389



Internal ID21189238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23712697..23712768hg38UCSC Ensembl
chr22:24054884..24054955hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033339
SamplesCHM1
Known GenesGUSBP11
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)nsv3057389
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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