A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047131



Internal ID21179177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4735322..4735322hg38UCSC Ensembl
chr9:4735322..4735322hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022990
SamplesNA12878
Known GenesAK3
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)nsv3047131
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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