A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005583



Internal ID18748114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241830506..242011715hg38UCSC Ensembl
Innerchr2:242772683..242953866hg19UCSC Ensembl
Innerchr2:242421356..242602539hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38181210
hg19181184
hg18181184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4201n100
Supporting Variantsnssv3587010
Samples
Known GenesCXXC11, PDCD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005583
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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