A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513736



Internal ID15506471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31389169..31487443hg38UCSC Ensembl
Outerchr6:31356946..31455220hg19UCSC Ensembl
Outerchr6:31464925..31563199hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3898275
hg1998275
hg1898275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626988
Samples1
Known GenesHCG26, HCP5, MICA
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513736
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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