A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002449



Internal ID18744981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12785708..12832443hg38UCSC Ensembl
Innerchr1:12845851..12892297hg19UCSC Ensembl
Innerchr1:12768438..12814884hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3846736
hg1946447
hg1846447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24n100
Supporting Variantsnssv3697918, nssv3474437
Samples
Known GenesPRAMEF1, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002449
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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