A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053898



Internal ID21185882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39101646..39101707hg38UCSC Ensembl
chr22:39497651..39497712hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017900
SamplesNA12878
Known GenesAPOBEC3H
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)nsv3053898
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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