A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9624



Internal ID15847536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37729774..37776115hg38UCSC Ensembl
Outerchr2:37956917..38003258hg19UCSC Ensembl
Outerchr2:37810421..37856762hg18UCSC Ensembl
Outerchr2:37868568..37914909hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3846342
hg1946342
hg1846342
hg1746342
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27031, nssv27838, nssv23997, nssv27744, nssv26374, nssv27154, nssv25704, nssv25946, nssv24566, nssv28583, nssv27830, nssv28259, nssv24572, nssv25462, nssv25451, nssv28672, nssv28148
SamplesNA18504, NA18563, NA18860, NA07048, NA18975, NA19007, NA10847, NA10863, NA12872, NA18537, NA18853, NA19132, NA18517, NA18564, NA12740, NA19173, NA18972
Known Genes
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)nsv9624
Frequency
Sample Size31
Observed Gain6
Observed Loss11
Observed Complex0
Frequencyn/a


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