A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048692



Internal ID19137911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33136012..33154428hg38UCSC Ensembl
Innerchr12:33288946..33307362hg19UCSC Ensembl
Innerchr12:33180213..33198629hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3818417
hg1918417
hg1818417
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1430n100
Supporting Variantsnssv3712424, nssv3519255
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)nsv1048692
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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