A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470210



Internal ID6060251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44085535..44178828hg19UCSC Ensembl
Innerchr7:44052060..44145353hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv545499
SamplesHGDP00789
Known GenesAEBP1, DBNL, MIR4649, MYL7, PGAM2, POLD2, POLM
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)nsv470210
Frequency
Sample Size443
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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