A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403



Internal ID15828026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:57088907..57091344hg38UCSC Ensembl
Outerchr1:57087282..57092038hg38UCSC Ensembl
Innerchr1:57554580..57557017hg19UCSC Ensembl
Outerchr1:57552955..57557711hg19UCSC Ensembl
Innerchr1:57327168..57329605hg18UCSC Ensembl
Outerchr1:57325543..57330299hg18UCSC Ensembl
Innerchr1:57266601..57269038hg17UCSC Ensembl
Outerchr1:57264976..57269732hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg384757
hg194757
hg184757
hg174757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10206
Supporting Variants
SamplesNA07048
Known GenesDAB1
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)nssv14403
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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