A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000803



Internal ID19090020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13062181..13135754hg38UCSC Ensembl
Innerchr2:13202306..13275879hg19UCSC Ensembl
Innerchr2:13119757..13193330hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3873574
hg1973574
hg1873574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3718n100
Supporting Variantsnssv3726757, nssv3576995, nssv3576992, nssv3576990, nssv3726760, nssv3577002, nssv3577000, nssv3576997, nssv3577003, nssv3576999, nssv3576998, nssv3726754, nssv3726759, nssv3576994, nssv3726758, nssv3576996, nssv3726756, nssv3577001, nssv3576991, nssv3576993, nssv3726755
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)nsv1000803
Frequency
Sample Size11257
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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