A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064294



Internal ID21177038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:8985422..8985422hg38UCSC Ensembl
chr10:9027385..9027385hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036661
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)nsv3064294
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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