A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011997



Internal ID18754533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1424430..1519167hg38UCSC Ensembl
Innerchr2:1428202..1522939hg19UCSC Ensembl
Innerchr2:1407209..1501946hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3894738
hg1994738
hg1894738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3701n100
Supporting Variantsnssv3571279, nssv3571278, nssv3571277
Samples
Known GenesTPO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011997
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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