A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063236



Internal ID21194766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41244525..41244577hg38UCSC Ensembl
chr21:42616452..42616504hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034256
SamplesNA12878
Known GenesBACE2
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)nsv3063236
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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