A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511713



Internal ID15851138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120175834..120179977hg38UCSC Ensembl
Outerchr1:145092833..145097111hg19UCSC Ensembl
Outerchr1:143804190..143808468hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384144
hg194279
hg184279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626355
Samples1
Known GenesLOC100288142, NBPF12, NBPF9, SEC22B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511713
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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