A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013630



Internal ID19102849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213752856..213806299hg38UCSC Ensembl
Innerchr2:214617580..214671023hg19UCSC Ensembl
Innerchr2:214325825..214379268hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3853444
hg1953444
hg1853444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729352
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)nsv1013630
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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