A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14037954



Internal ID21167905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102601108..102601432hg38UCSC Ensembl
chr11:102471839..102472163hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3064328
Supporting Variants
SamplesNA12878
Known GenesMMP20
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)nssv14037954
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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