A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14033541



Internal ID21155783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12260982..12261493hg38UCSC Ensembl
chr16:12354839..12355350hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3066965
Supporting Variants
SamplesCHM1
Known GenesSNX29
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)nssv14033541
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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