A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048882



Internal ID21180930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76612424..76612485hg38UCSC Ensembl
chr12:77006204..77006265hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034079
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)nsv3048882
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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