A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065925



Internal ID21197346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56558335..56558335hg38UCSC Ensembl
chr12:56952119..56952119hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034594
SamplesCHM1
Known GenesRBMS2
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)nsv3065925
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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