A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511304



Internal ID15850729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:137519694..137520513hg38UCSC Ensembl
Outerchr5:137513884..137522670hg38UCSC Ensembl
Innerchr5:136855383..136856202hg19UCSC Ensembl
Outerchr5:136849573..136858359hg19UCSC Ensembl
Innerchr5:136883282..136884101hg18UCSC Ensembl
Outerchr5:136877472..136886258hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388787
hg198787
hg188787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625277
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511304
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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