A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047355



Internal ID21179401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14152004..14152004hg38UCSC Ensembl
chr6:14152235..14152235hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020215
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)nsv3047355
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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