A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040309



Internal ID19129528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31257350hg38UCSC Ensembl
Innerchr12:31278031..31410284hg19UCSC Ensembl
Innerchr12:31169298..31301551hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38132254
hg19132254
hg18132254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3711242, nssv3509487, nssv3508108, nssv3711244, nssv3511352, nssv3517485, nssv3711241, nssv3516710, nssv3512637, nssv3514768, nssv3507136, nssv3514403, nssv3515018, nssv3510761, nssv3519390, nssv3518318, nssv3516160, nssv3711246, nssv3508287, nssv3711245, nssv3513781, nssv3711237, nssv3513212, nssv3517855, nssv3509880, nssv3711243, nssv3711238, nssv3711240, nssv3711239
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)nsv1040309
Frequency
Sample Size11257
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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