A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048124



Internal ID18790655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41105419..41191513hg38UCSC Ensembl
Innerchr12:41499221..41585315hg19UCSC Ensembl
Innerchr12:39785488..39871582hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3886095
hg1986095
hg1886095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523500
Samples
Known GenesPDZRN4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048124
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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