A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv181n100



Internal ID22786268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72274270..72354332hg38UCSC Ensembl
chr1:72739953..72820015hg19UCSC Ensembl
chr1:72512541..72592603hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3880063
hg1980063
hg1880063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001416, nsv999271, nsv1001613, nsv1012292, nsv1007101, nsv1012170, nsv1014214, nsv1013213, nsv997689, nsv1007840, nsv999300, nsv1005389, nsv1012548, nsv1001214, nsv1010225, nsv997734, nsv1007310, nsv1010247, nsv997271, nsv998364, nsv998162, nsv1002360, nsv1011285, nsv1004319, nsv1008566, nsv1008824, nsv1004504
Samples
Known GenesNEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv181n100
Frequency
Sample Size11257
Observed Gain168
Observed Loss0
Observed Complex0
Frequencyn/a


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