A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054103



Internal ID21186083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1010925..1010925hg38UCSC Ensembl
chr10:1056865..1056865hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030349
SamplesNA12878
Known GenesGTPBP4
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)nsv3054103
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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