A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051039



Internal ID19140258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52042..141073hg38UCSC Ensembl
Innerchr12:161208..250239hg19UCSC Ensembl
Innerchr12:31469..120500hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3889032
hg1989032
hg1889032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1329n100
Supporting Variantsnssv3513487
Samples
Known GenesIQSEC3, LOC574538
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051039
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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