A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064860



Internal ID21196317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78351241..78351241hg38UCSC Ensembl
chr17:76347322..76347322hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034451
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)nsv3064860
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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