A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040249



Internal ID18782780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14156211..14467244hg38UCSC Ensembl
Innerchr12:14309145..14620178hg19UCSC Ensembl
Innerchr12:14200412..14511445hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38311034
hg19311034
hg18311034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1393n100
Supporting Variantsnssv3710281
Samples
Known GenesATF7IP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040249
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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