A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064282



Internal ID21195785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69548986..69548986hg38UCSC Ensembl
chr10:71308742..71308742hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035900
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)nsv3064282
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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