A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv877471



Internal ID6284482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128792751..128854285hg19UCSC Ensembl
Outerchr3:128762833..128878729hg19UCSC Ensembl
Innerchr3:130275441..130336975hg18UCSC Ensembl
Outerchr3:130245523..130361419hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1589737, nssv1598092, nssv1573759
SamplesIS33504, IS38403, IS41317
Known GenesGP9, ISY1, ISY1-RAB43, RAB43
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv877471
Frequency
Sample Size6533
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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