A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002492



Internal ID19091709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91460974..91603118hg38UCSC Ensembl
Innerchr2:91653350..91791144hg19UCSC Ensembl
Innerchr2:91017077..91154871hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38142145
hg19137795
hg18137795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3994n100
Supporting Variantsnssv3579453
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)nsv1002492
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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