A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv145n100



Internal ID20151761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30666071..30792998hg38UCSC Ensembl
chr1:31138918..31265845hg19UCSC Ensembl
chr1:30911505..31038432hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38126928
hg19126928
hg18126928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010777, nsv997356
Samples
Known GenesLAPTM5, MATN1, MATN1-AS1, MIR4420
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv145n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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