A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875767



Internal ID6282778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211125828..211328663hg19UCSC Ensembl
Outerchr2:211119233..211334647hg19UCSC Ensembl
Innerchr2:210834073..211036908hg18UCSC Ensembl
Outerchr2:210827478..211042892hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1500282
SamplesSP50084
Known GenesLANCL1, MYL1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875767
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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