A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053482



Internal ID21185485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155954559..155954559hg38UCSC Ensembl
chr1:155924350..155924350hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025251
SamplesNA12878
Known GenesARHGEF2
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)nsv3053482
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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