A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048743



Internal ID21180791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40247645..40247755hg38UCSC Ensembl
chr12:40641447..40641557hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033886
SamplesNA12878
Known GenesLRRK2
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)nsv3048743
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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