A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043290



Internal ID18785821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79649380..79684747hg38UCSC Ensembl
Innerchr12:80043160..80078527hg19UCSC Ensembl
Innerchr12:78567291..78602658hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3835368
hg1935368
hg1835368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524645
Samples
Known GenesPAWR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043290
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer