A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043253



Internal ID19132472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85494373..85731586hg38UCSC Ensembl
Innerchr12:85888151..86125364hg19UCSC Ensembl
Innerchr12:84412282..84649495hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38237214
hg19237214
hg18237214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524761
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)nsv1043253
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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