A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv158n100



Internal ID22786245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43559459..43620498hg38UCSC Ensembl
chr1:44025130..44086169hg19UCSC Ensembl
chr1:43797717..43858756hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3861040
hg1961040
hg1861040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000970, nsv1005653, nsv997446, nsv1009429, nsv1008051, nsv1008451
Samples
Known GenesPTPRF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv158n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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