A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044570



Internal ID18787101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31108764..31241167hg38UCSC Ensembl
Innerchr12:31261698..31394101hg19UCSC Ensembl
Innerchr12:31152965..31285368hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38132404
hg19132404
hg18132404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3518294, nssv3511421, nssv3517280
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)nsv1044570
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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