A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469926



Internal ID6060430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1834254..2057646hg19UCSC Ensembl
Innerchr11:1790830..2014222hg18UCSC Ensembl
Cytoband11p15.5
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 Variantsnssv546035, nssv546034, nssv546042, nssv546041, nssv546037, nssv546033, nssv546040, nssv546039, nssv546038, nssv546036, nssv546029, nssv546030
SamplesHGDP00703, HGDP00288, HGDP00546, HGDP00298, HGDP00302, HGDP00550, HGDP00825, HGDP00978, HGDP00959, HGDP00697, HGDP00657, HGDP00661
Known GenesH19, LSP1, MIR4298, MIR675, MRPL23, MRPL23-AS1, SYT8, TNNI2, TNNT3
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)nsv469926
Frequency
Sample Size443
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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