A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007185



Internal ID18749716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10400260..10651617hg38UCSC Ensembl
Innerchr2:10540386..10791743hg19UCSC Ensembl
Innerchr2:10457837..10709194hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38251358
hg19251358
hg18251358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576960
Samples
Known GenesHPCAL1, NOL10, ODC1, SNORA80B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007185
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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