A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7880



Internal ID15499106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6417968..6611914hg38UCSC Ensembl
Outerchr1:6478028..6671974hg19UCSC Ensembl
Outerchr1:6400615..6594561hg18UCSC Ensembl
Outerchr1:6412294..6606240hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38193947
hg19193947
hg18193947
hg17193947
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11789, nssv24605, nssv21438
SamplesNA18517, NA18564, NA19173
Known GenesESPN, HES2, KLHL21, MIR4252, NOL9, PLEKHG5, TAS1R1, TNFRSF25, ZBTB48
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)nsv7880
Frequency
Sample Size31
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer