A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057211



Internal ID21189062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132213139..132213218hg38UCSC Ensembl
chr12:132697684..132697763hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14016062
SamplesNA12878
Known GenesGALNT9
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)nsv3057211
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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