A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054795



Internal ID21186758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044601..105044601hg38UCSC Ensembl
chr12:105438379..105438379hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032704
SamplesNA12878
Known GenesALDH1L2
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)nsv3054795
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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