A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052503



Internal ID21184537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:36662492..36662544hg38UCSC Ensembl
chr15:36954693..36954745hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018838
SamplesNA12878
Known GenesC15orf41
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)nsv3052503
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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