A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008631



Internal ID18751162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12779421..12853295hg38UCSC Ensembl
Innerchr1:12839564..12913148hg19UCSC Ensembl
Innerchr1:12762151..12835735hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3873875
hg1973585
hg1873585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n100
Supporting Variantsnssv3478201
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008631
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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