A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv876051



Internal ID6283062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238258280..238265684hg19UCSC Ensembl
Outerchr2:238257896..238267058hg19UCSC Ensembl
Innerchr2:237923019..237930423hg18UCSC Ensembl
Outerchr2:237922635..237931797hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1499969
SamplesSP50084
Known GenesCOL6A3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv876051
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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