A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511795



Internal ID15851220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:94834569..94901351hg38UCSC Ensembl
Outerchr2:95500314..95567096hg19UCSC Ensembl
Outerchr2:94864041..94930823hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3866783
hg1966783
hg1866783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626446
Samples1
Known GenesANKRD20A8P, LOC442028, TEKT4
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511795
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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