A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058691



Internal ID21190455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124795008..124798272hg38UCSC Ensembl
chr8:125807250..125810514hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383265
hg193265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033156
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)nsv3058691
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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