A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16432



Internal ID15492342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109700002..109712158hg38UCSC Ensembl
Outerchr1:109699584..109712953hg38UCSC Ensembl
Innerchr1:110242624..110254780hg19UCSC Ensembl
Outerchr1:110242206..110255575hg19UCSC Ensembl
Innerchr1:110044147..110056303hg18UCSC Ensembl
Outerchr1:110043729..110057098hg18UCSC Ensembl
Innerchr1:109954666..109966822hg17UCSC Ensembl
Outerchr1:109954248..109967617hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3813370
hg1913370
hg1813370
hg1713370
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA18942
Known GenesGSTM5
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)nssv16432
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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