A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030940



Internal ID21163231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177396576..177396656hg38UCSC Ensembl
chr5:176823577..176823657hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3054590
Supporting Variants
SamplesNA12878
Known GenesSLC34A1
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)nssv14030940
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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