A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050752



Internal ID21182802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133548983..133549307hg38UCSC Ensembl
chr9:136414105..136414429hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1619n140
Supporting Variantsnssv14029080
SamplesNA12878
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)nsv3050752
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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