A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042661



Internal ID18785192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32718926..32775899hg38UCSC Ensembl
Innerchr12:32871860..32928833hg19UCSC Ensembl
Innerchr12:32763127..32820100hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3856974
hg1956974
hg1856974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1429n100
Supporting Variantsnssv3512426
Samples
Known GenesDNM1L, YARS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042661
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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