A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28933



Internal ID15488919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12881009..12893827hg38UCSC Ensembl
Outerchr1:12880694..12894335hg38UCSC Ensembl
Innerchr1:12940830..12953658hg19UCSC Ensembl
Outerchr1:12940515..12954166hg19UCSC Ensembl
Innerchr1:12863417..12876245hg18UCSC Ensembl
Outerchr1:12863102..12876753hg18UCSC Ensembl
Innerchr1:12875096..12887924hg17UCSC Ensembl
Outerchr1:12874781..12888432hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3813642
hg1913652
hg1813652
hg1713652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18552
Known GenesPRAMEF10, PRAMEF4
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)nssv28933
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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