A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054078



Internal ID21186058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6107717..6107717hg38UCSC Ensembl
chr1:6167777..6167777hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031458
SamplesNA12878
Known GenesCHD5
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)nsv3054078
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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