A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17072



Internal ID15480836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109685779..109685964hg38UCSC Ensembl
Outerchr1:109685510..109687283hg38UCSC Ensembl
Innerchr1:110228401..110228586hg19UCSC Ensembl
Outerchr1:110228132..110229905hg19UCSC Ensembl
Innerchr1:110029924..110030109hg18UCSC Ensembl
Outerchr1:110029655..110031428hg18UCSC Ensembl
Innerchr1:109940443..109940628hg17UCSC Ensembl
Outerchr1:109940174..109941947hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381774
hg191774
hg181774
hg171774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA07029
Known Genes
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)nssv17072
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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