A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056206



Internal ID21188119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34977749..34977749hg38UCSC Ensembl
chr17:33304768..33304768hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38913
hg19913
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028925
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)nsv3056206
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer