A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052118



Internal ID21184163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17552584..17552668hg38UCSC Ensembl
chr8:17410093..17410177hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025308
SamplesNA12878
Known GenesSLC7A2
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)nsv3052118
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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