A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024597



Internal ID21157821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43888076..43888382hg38UCSC Ensembl
chr11:43909626..43909932hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061640
Supporting Variants
SamplesCHM1
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)nssv14024597
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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