A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057198



Internal ID21189049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20204334..20204334hg38UCSC Ensembl
chr2:20404095..20404095hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032927
SamplesNA12878
Known GenesSDC1
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)nsv3057198
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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