A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512744



Internal ID15852166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:87046590..87046813hg38UCSC Ensembl
Outerchr1:87512273..87512496hg19UCSC Ensembl
Outerchr1:87284861..87285084hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381966
hg191966
hg181966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625371
Samples1
Known GenesHS2ST1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512744
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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