A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21508



Internal ID15495638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:537142..537716hg38UCSC Ensembl
Outerchr12:536006..538615hg38UCSC Ensembl
Innerchr12:646308..646882hg19UCSC Ensembl
Outerchr12:645172..647781hg19UCSC Ensembl
Innerchr12:516569..517143hg18UCSC Ensembl
Outerchr12:515433..518042hg18UCSC Ensembl
Innerchr12:516569..517143hg17UCSC Ensembl
Outerchr12:515433..518042hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382610
hg192610
hg182610
hg172610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8886
Supporting Variants
SamplesNA19144
Known GenesB4GALNT3
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv21508
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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