A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470662



Internal ID6060234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94762879..95265130hg19UCSC Ensembl
Innerchr14:93832632..94334883hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv547604, nssv547602, nssv547603
SamplesHGDP00983, HGDP00953
Known GenesGSC, SERPINA1, SERPINA11, SERPINA12, SERPINA13, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9
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
CommentsSingle-copy duplication
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv470662
Frequency
Sample Size443
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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