A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv909519



Internal ID6271446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:29186128..29319423hg19UCSC Ensembl
Outerchr18:29172865..29330214hg19UCSC Ensembl
Innerchr18:27440126..27573421hg18UCSC Ensembl
Outerchr18:27426863..27584212hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1557558
SamplesMS22754
Known GenesB4GALT6, TTR
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv909519
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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