A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054659



Internal ID21186622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154125794..154126116hg38UCSC Ensembl
chr6:154446929..154447251hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1312n140
Supporting Variantsnssv14027985
SamplesNA12878
Known GenesOPRM1
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)nsv3054659
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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