A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056625



Internal ID21188509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36287069..36287069hg38UCSC Ensembl
chr11:36308619..36308619hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38863
hg19863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027159
SamplesNA12878
Known GenesCOMMD9
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)nsv3056625
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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