A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003020



Internal ID19092237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57365505..57454681hg38UCSC Ensembl
Innerchr2:57592640..57681816hg19UCSC Ensembl
Innerchr2:57446144..57535320hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3889177
hg1989177
hg1889177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577229, nssv3577230
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003020
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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