A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14032543



Internal ID21164285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75537303..75537303hg38UCSC Ensembl
chr12:75931083..75931083hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3054896
Supporting Variants
SamplesNA12878
Known Genes
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)nssv14032543
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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