A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054163



Internal ID21186143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:29494837..29494837hg38UCSC Ensembl
chr10:29783766..29783766hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028287
SamplesNA12878
Known GenesSVIL
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)nsv3054163
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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