A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060674



Internal ID21192345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132421627..132421703hg38UCSC Ensembl
chr9:135297014..135297090hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1616n140
Supporting Variantsnssv14025193
SamplesCHM1
Known GenesC9orf171
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)nsv3060674
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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