A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006144



Internal ID18748675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68354069..68377630hg38UCSC Ensembl
Innerchr2:68581201..68604762hg19UCSC Ensembl
Innerchr2:68434705..68458266hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3823562
hg1923562
hg1823562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3730861
Samples
Known GenesPLEK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006144
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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