A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053878



Internal ID21185862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9616901..9618666hg38UCSC Ensembl
chr15:20022212..20024080hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381766
hg191869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018403
SamplesNA12878
Known Genes
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)nsv3053878
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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