A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14026048



Internal ID21153410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130090883..130090883hg38UCSC Ensembl
chr3:129809726..129809726hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3060915
Supporting Variants
SamplesCHM1
Known GenesALG1L2
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)nssv14026048
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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