A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10206



Internal ID15845169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:57087282..57093437hg38UCSC Ensembl
Outerchr1:57552955..57559110hg19UCSC Ensembl
Outerchr1:57325543..57331698hg18UCSC Ensembl
Outerchr1:57264976..57271131hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg386156
hg196156
hg186156
hg176156
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11765, nssv12117, nssv14403, nssv17734
SamplesNA07048, NA10839, NA10847, NA19132
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)nsv10206
Frequency
Sample Size31
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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