A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471717



Internal ID15214632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23549650..23550440hg38UCSC Ensembl
chr8:23407163..23407953hg19UCSC Ensembl
chr8:23463108..23463898hg18UCSC Ensembl
chr8:23463108..23463898hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38791
hg19791
hg18791
hg17791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv645998
Samples
Known GenesSLC25A37
MethodOligo aCGH
AnalysisHaploid hybridization data was used to identify genomic intervals showing reduced hybridization signal in comparison to the reference human genome sequence.
PlatformCustom Perlegen arrays
Comments
ReferenceHinds_et_al_2006
Pubmed ID16327809
Accession Number(s)nsv471717
Frequency
Sample Size95
Observed Gainn/a
Observed Lossn/a
Observed Complexn/a
Frequencyn/a


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