A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040304



Internal ID19129523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:38514440..38601984hg38UCSC Ensembl
Innerchr12:38908242..38995786hg19UCSC Ensembl
Innerchr12:37194509..37282053hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3887545
hg1987545
hg1887545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523092, nssv3712452
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)nsv1040304
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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