A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031441



Internal ID21153680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40819406..40821785hg38UCSC Ensembl
chr15:41111604..41113983hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg382380
hg192380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062017
Supporting Variants
SamplesCHM1
Known GenesPPP1R14D
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)nssv14031441
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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