A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057689



Internal ID21189523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43888040..43888347hg38UCSC Ensembl
chr11:43909590..43909897hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv236n140
Supporting Variantsnssv14020971
SamplesNA12878
Known GenesALKBH3
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)nsv3057689
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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