A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8103



Internal ID15499329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145960053..145963570hg38UCSC Ensembl
Outerchr1:145471520..145475035hg19UCSC Ensembl
Outerchr1:144182877..144186392hg18UCSC Ensembl
Outerchr1:142960564..142964079hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383518
hg193516
hg183516
hg173516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20742, nssv24301
SamplesNA18502, NA19221
Known GenesANKRD34A, LOC100288142, NBPF10
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)nsv8103
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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