A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12116



Internal ID15494360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16533055..16873926hg38UCSC Ensembl
Outerchr1:16532224..16875712hg38UCSC Ensembl
Innerchr1:16859550..17200421hg19UCSC Ensembl
Outerchr1:16858719..17202207hg19UCSC Ensembl
Innerchr1:16732137..17073008hg18UCSC Ensembl
Outerchr1:16731306..17074794hg18UCSC Ensembl
Innerchr1:16604856..16945727hg17UCSC Ensembl
Outerchr1:16604025..16947513hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38343489
hg19343489
hg18343489
hg17343489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA19007
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
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)nssv12116
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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