A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625092



Internal ID15848628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45178937..45181268hg38UCSC Ensembl
Outerchr17:43256304..43258635hg19UCSC Ensembl
Outerchr17:40612087..40614418hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382332
hg192332
hg182332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512492
Supporting Variants
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625092
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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