A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051473



Internal ID21183525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52472686..52472738hg38UCSC Ensembl
chr6:52337484..52337536hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033289
SamplesNA12878
Known GenesEFHC1
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)nsv3051473
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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