A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058706



Internal ID21190470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27918660..27918713hg38UCSC Ensembl
chr8:27776177..27776230hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028225
SamplesCHM1
Known GenesSCARA5
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)nsv3058706
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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