A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009446



Internal ID18751977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61872503..61972765hg38UCSC Ensembl
Innerchr2:62099638..62199900hg19UCSC Ensembl
Innerchr2:61953142..62053404hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38100263
hg19100263
hg18100263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577249
Samples
Known GenesCCT4, COMMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009446
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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