A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042647



Internal ID18785178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104467716..104494716hg38UCSC Ensembl
Innerchr12:104861494..104888494hg19UCSC Ensembl
Innerchr12:103385624..103412624hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3827001
hg1927001
hg1827001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524869
Samples
Known GenesCHST11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042647
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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