A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3055608



Internal ID21187539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10764721..10764721hg38UCSC Ensembl
chr16:10858578..10858578hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022057
SamplesNA12878
Known GenesNUBP1
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)nsv3055608
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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