A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14026207



Internal ID21175164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84080546..84080872hg38UCSC Ensembl
chr7:83709862..83710188hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3050665
Supporting Variants
SamplesNA12878
Known GenesSEMA3A
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)nssv14026207
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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