A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999323



Internal ID19158859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214018918..214068785hg38UCSC Ensembl
Innerchr2:214883642..214933509hg19UCSC Ensembl
Innerchr2:214591887..214641754hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3849868
hg1949868
hg1849868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585676
Samples
Known GenesSPAG16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999323
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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