A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052520



Internal ID21184554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75693390..75694136hg38UCSC Ensembl
chr15:75985731..75986477hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020912
SamplesNA12878
Known GenesCSPG4
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)nsv3052520
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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