A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470677



Internal ID6060758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105126354..105348552hg19UCSC Ensembl
Innerchr14:104197399..104419597hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv547632, nssv547635, nssv547633, nssv547629, nssv547628, nssv547630, nssv547631
SamplesHGDP00298, HGDP00789, HGDP00550, HGDP00978, HGDP00328, HGDP00543, HGDP00657
Known GenesADSSL1, AKT1, INF2, KIAA0284, MGC23270, MIR4710, SIVA1, ZBTB42
Method
AnalysisOverlapping CNVs were merged. The positions are based on the farthest SNPs observed anomg any individuals with the CNV.
PlatformIllumina HumanHap550 Genotyping BeadChip v1 + v3
Comments
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv470677
Frequency
Sample Size443
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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