A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv182n100



Internal ID22786269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72280838..72323916hg38UCSC Ensembl
chr1:72746521..72789599hg19UCSC Ensembl
chr1:72519109..72562187hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3843079
hg1943079
hg1843079
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006854, nsv1003067, nsv1010051, nsv1009061, nsv1000767, nsv1005892
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)dgv182n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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