A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14033407



Internal ID21164879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6730312..6730633hg38UCSC Ensembl
chr8:6587833..6588154hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3063830
Supporting Variants
SamplesNA12878
Known GenesAGPAT5
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)nssv14033407
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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