A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000550



Internal ID19089767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12779421..12858224hg38UCSC Ensembl
Innerchr1:12839564..12918079hg19UCSC Ensembl
Innerchr1:12762151..12840666hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3878804
hg1978516
hg1878516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n100
Supporting Variantsnssv3480618
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000550
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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