A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051990



Internal ID21184035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14212209..14212315hg38UCSC Ensembl
chr7:14251834..14251940hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033267
SamplesNA12878
Known GenesDGKB
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)nsv3051990
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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