A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1619n140



Internal ID22812556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133548983..133549308hg38UCSC Ensembl
chr9:136414105..136414430hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3065633, nsv3050752
SamplesCHM1, NA12878
Known GenesADAMTSL2
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)dgv1619n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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