A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875845



Internal ID6282856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217243312..217285809hg19UCSC Ensembl
Outerchr2:217233808..217289413hg19UCSC Ensembl
Innerchr2:216951557..216994054hg18UCSC Ensembl
Outerchr2:216942053..216997658hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1499893
SamplesSP50084
Known GenesMARCH4, SMARCAL1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875845
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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