A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038629



Internal ID19127848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61394986..61436589hg38UCSC Ensembl
Innerchr12:61788767..61830370hg19UCSC Ensembl
Innerchr12:60075034..60116637hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3841604
hg1941604
hg1841604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1514n100
Supporting Variantsnssv3523660
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)nsv1038629
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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