A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060826



Internal ID21192495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68816531..68818219hg38UCSC Ensembl
chr10:70576288..70577976hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381689
hg191689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018909
SamplesCHM1
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)nsv3060826
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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