A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050275



Internal ID21182324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1887915..1887915hg38UCSC Ensembl
chr7:1927551..1927551hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14016505
SamplesNA12878
Known GenesMAD1L1
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)nsv3050275
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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