A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048872



Internal ID19138091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37463949..37593912hg38UCSC Ensembl
Innerchr12:37857751..37987714hg19UCSC Ensembl
Innerchr12:36144018..36273981hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38129964
hg19129964
hg18129964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1464n100
Supporting Variantsnssv3522859
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)nsv1048872
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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