A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4041n100



Internal ID20155657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110067648..110226092hg38UCSC Ensembl
chr2:110825225..110983669hg19UCSC Ensembl
chr2:110182514..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38158445
hg19158445
hg18158445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003081, nsv1006361, nsv998016, nsv1000786, nsv1013670
Samples
Known GenesLINC00116, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4041n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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