A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045561



Internal ID21177607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44470796..44470872hg38UCSC Ensembl
chr12:44864579..44864655hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022788
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)nsv3045561
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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