A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053465



Internal ID21185468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114658774..114658774hg38UCSC Ensembl
chr1:115201395..115201395hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030270
SamplesNA12878
Known GenesDENND2C
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)nsv3053465
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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