A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024178



Internal ID21173786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8247468..8247468hg38UCSC Ensembl
chrUn_gl000220:146574..146574hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045518
Supporting Variants
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)nssv14024178
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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