A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040632



Internal ID19129851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19849985..19943607hg38UCSC Ensembl
Innerchr12:20002919..20096541hg19UCSC Ensembl
Innerchr12:19894186..19987808hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3893623
hg1993623
hg1893623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1402n100
Supporting Variantsnssv3507835
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)nsv1040632
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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