A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820752



Internal ID6111394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238451241..238454397hg19UCSC Ensembl
Innerchr2:238115980..238119136hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1420294
SamplesNA10851
Known GenesMLPH
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformIllumina IIx
Comments
ReferenceJu_et_al_2010
Pubmed ID20802225
Accession Number(s)nsv820752
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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